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	NSWES942-F	WT	HH	HZ	NC
chr1	1490591	1490591	G	A	exonic	ATAD3B	.	nonsynonymous SNV	ATAD3B:NM_001317238:exon13:c.G1396A:p.G466R,ATAD3B:NM_031921:exon15:c.G1534A:p.G512R	.	432	1062	27	1	0	29	0.0134696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.640	0.367517647289	7.7e-05	0.00119808	0.0009	0.0001	0.0001	0	0	0.0004	0	0.0048	0.0006986	108	154602	rs371797847	0.0005	0.0005	0.0003	0.0007	0.0055	0.0005	0.0005	0.0044	0.0042	0.0001	0.0003	0.0022	2.525e-05	0	0.0055	0.0002	0.0007	0.0047	0.0003	0.0003	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	2.407e-05	0	0.0001	0.0026	0	0	0	0.0002	0	0.0054	0.091	0.31834	T	0.319	0.19188	T	0.934	0.52202	P	0.288	0.40614	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.955	0.52871	M	-3.53	0.94764	D	-3.79	0.71639	D	0.646	0.65758	0.554	0.91288	D	0.816	0.93812	D	10	0.021294236	0.00506	T	0.367518	0.92665	D	0.640	0.86283	0.563	0.68364	0.82766997058	0.82603	0.23252161715020395	0.23167	0.0374059703501	0.03967	0.640593290329	0.58649	T	0.082176	0.36767	T	-0.0566224	0.43434	T	0.146293	0.79950	D	0.12736808118792	0.15137	T	0.971703	0.89738	D	0.28298393	0.51333	0.20234084	0.44257	0.28298393	0.51333	0.20234084	0.44256	-8.713	0.65830	D	.	.	.	.	.	.	.	3.127787	0.42255	21.5	0.95906600698738009	0.28147	0.91036	0.52735	D	AEFBI	0.634985	0.61466	D	-0.055284376640717	0.39365	2.320346	-0.234434062783645	0.30312	1.705563	0.0366613238026208	0.14255	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	2.55	1.6	0.22686	5.053000	0.64089	7.013000	0.57238	0.241000	0.18245	1.000000	0.71638	1.000000	0.68203	0.012000	0.09680	0.1249:0.0:0.8751:0.0	8.489	0.32251	856	0.34373	.	.	.	.	.	.	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	0.004541	0.005051	0.004076	0.002924	0.000000	0.008621	0.009259	0.003788	0.1	3736.14	39	chr1	1490591	.	G	A	3736.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.96;DP=619;ExcessHet=0.2348;FS=1.299;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=55.3;MQRankSum=-0.479;QD=11.25;ReadPosRankSum=-0.077;SOR=0.612	GT:AD:DP:GQ:PL	0/1:109,79:188:99:1949,0,2518	8	0	2	0
chr1	1704971	1704971	G	A	exonic	CDK11A	.	nonsynonymous SNV	CDK11A:NM_001313896:exon13:c.C1400T:p.P467L,CDK11A:NM_001313982:exon13:c.C1388T:p.P463L,CDK11A:NM_024011:exon13:c.C1391T:p.P464L,CDK11A:NM_033529:exon13:c.C1361T:p.P454L	.	.	.	.	.	.	.	.	.	.	.	3943629	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.394	0.104087805468	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs748804386	8.949e-06	8.906e-06	1.233e-05	5.535e-06	0.0002	4.99e-06	3.85e-06	4.57e-06	3.33e-06	3.061e-05	0	0	0	0	0.0002	9.038e-06	1.672e-05	0	0	6.603e-06	0	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	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.625	0.41611	L	0.14	0.60854	T	-9.34	0.98340	D	0.532	0.69562	-0.2883	0.75312	T	0.345	0.71004	T	10	0.7163617	0.73372	D	0.104088	0.77848	D	0.394	0.70924	0.711	0.84691	0.645752913984	0.64282	0.6136493866532732	0.61296	0.197134084636	0.22086	.	.	.	0.099572	0.40451	T	0.0207392	0.54481	T	-0.1925	0.55355	T	0.993521630764008	0.84356	D	0.950305	0.80969	D	0.84894747	0.87258	0.6644851	0.80330	0.84894747	0.87259	0.6644851	0.80331	-11.763	0.83677	D	.	.	0.966	0.92429	P	.;.;.;.;.;.	.;.;.;.;.;.	4.535087	0.71228	25.6	0.97754582248721977	0.35763	0.91533	0.53729	D	AEFDBI	0.581976	0.58178	D	0.313999116574109	0.56866	3.852168	0.118253709067676	0.45481	2.810633	0.991783790221115	0.32608	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	2.6	2.6	0.30173	4.273000	0.58711	2.459000	0.32846	0.299000	0.18918	1.000000	0.71638	0.990000	0.31317	0.714000	0.34579	0.0:0.0:1.0:0.0	12.598	0.55835	658	0.62094	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2348.43	41	chr1	1704971	.	G	A	2348.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.86;DP=559;ExcessHet=0;FS=1.778;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.61;MQRankSum=-0.348;QD=11.98;ReadPosRankSum=0.026;SOR=0.866	GT:AD:DP:GQ:PL	0/1:104,92:196:99:2360,0,2419	9	0	1	0
chr1	3498370	3498370	C	T	splicing	MEGF6	NM_001409:exon26:c.3352+1G>A	.	.	.	422	1099	1	0	0	1	0.000454752	0.9999	0.852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0002	0	0.0004	0.0017	0	3.87e-05	0.0016	0	0.0001358	21	154602	rs199620875	4.212e-05	4.72e-05	4.121e-05	4.303e-05	0.0005	3.341e-05	3.029e-05	0.0001	0.0001	0	0.0001	0	0.0003	0	0.0005	2.435e-05	6.674e-05	0.0001	6.564e-05	6.561e-05	5.139e-05	8.054e-05	0.0006	3.513e-05	2.614e-05	0.0002	8.381e-05	0	0	6.534e-05	0	0.0006	0	0	7.351e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.26222	0.12641	T	-0.236167	0.51173	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.147850	0.62199	24.4	0.9336150577459057	0.23101	0.88088	0.47865	D	AEFBCI	.	.	.	0.638883428411664	0.75650	6.343828	0.393418649849696	0.61157	4.312142	0.999658477255932	0.41424	0.090766	0.02384	0	0.060609	0.00678	0	0.129117	0.03641	0	0.092715	0.02821	0	0.829698	0.49751	3.65	2.72	0.31179	2.986000	0.49059	1.871000	0.29387	0.490000	0.22344	0.962000	0.33725	0.950000	0.28999	0.812000	0.38265	0.0:0.9004:0.0:0.0996	10.496	0.43961	982	0.03397	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	514.43	43	chr1	3498370	.	C	T	514.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.09;DP=355;ExcessHet=0;FS=1.293;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=0.015;SOR=1.022	GT:AD:DP:GQ:PL	0/1:16,22:38:99:526,0,313	9	0	1	0
chr1	3631558	3631558	G	A	exonic	WRAP73	.	nonsynonymous SNV	WRAP73:NM_017818:exon11:c.C1148T:p.P383L	.	421	1079	22	0	0	22	0.0100917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.530	.	0.0019	0.00519169	0.0047	0.0007	0.0037	0.0001	0	0.0040	0.0026	0.0149	0.0040038	619	154602	rs151110688	0.0029	0.0029	0.0026	0.0033	0.0126	0.0029	0.0028	0.0120	0.0117	0.0003	0.0029	0.0121	7.561e-05	7.785e-05	0.0078	0.0022	0.0040	0.0126	0.0027	0.0027	0.0027	0.0028	0.0122	0.0025	0.0024	0.0097	0.0088	0.0005	0	0.0056	0.0127	0.0004	0	0.0068	0.0028	0.0061	0.0122	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	3.02	0.86243	M	2.96	0.10101	T	-9.38	0.98366	D	0.893	0.89800	-0.9020	0.47782	T	0.091	0.34737	T	10	0.010327965	0.00230	T	.	.	.	0.530	0.80188	.	.	0.473143432122	0.46942	0.6306573991644232	0.62999	0.775894844478	0.65027	0.501217484474	0.38998	T	0.226463	0.59150	T	-0.122323	0.32747	T	0.062546	0.74414	D	0.127288544161297	0.15129	T	0.960504	0.85148	D	0.88864785	0.90392	0.73747844	0.84484	0.88864785	0.90393	0.73747844	0.84485	-10.239	0.75330	D	.	.	0.188	0.50481	B	.;.	.;.	4.934202	0.81377	27.5	0.9991327613985016	0.98238	0.96024	0.67189	D	AEFDBCI	0.892278	0.82906	D	0.924847458241995	0.92924	11.71118	0.849086251393675	0.92963	11.73892	0.999999999997446	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.26897	0.05253	2	0.635551	0.53088	0	.	.	5.46	5.46	0.80021	9.219000	0.94313	8.561000	0.77567	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.849000	0.40138	0.0:0.0:1.0:0.0	18.280	0.90035	951	0.11083	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.000000	0.006793	0.008772	0.000000	0.017241	0.021341	0.011364	0.05	987.43	35	chr1	3631558	.	G	A	987.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.47;DP=423;ExcessHet=0;FS=2.597;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-1.09;SOR=1.005	GT:AD:DP:GQ:PL	0/1:62,42:104:99:999,0,1447	9	0	1	0
chr1	3763781	3763781	C	T	exonic	CCDC27	.	nonsynonymous SNV	CCDC27:NM_152492:exon8:c.C1397T:p.T466M	.	397	1118	7	0	0	7	0.00312082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0058	0.00339457	0.0068	0.0012	0.0056	0	0.0109	0.0099	0.0044	0.0007	0.0064165	992	154602	rs144028564	0.0067	0.0067	0.0067	0.0067	0.0074	0.0066	0.0065	0.0070	0.0069	0.0011	0.0074	0.0184	0.0001	0.0094	0.0019	0.0071	0.0065	0.0012	0.0069	0.0069	0.0068	0.0070	0.0110	0.0066	0.0064	0.0097	0.0092	0.0012	0.0022	0.0110	0.0204	0.0004	0.0086	0	0.0095	0.0090	0.0012	0.381	0.11156	T	0.136	0.34009	T	0.0	0.02946	B	0.001	0.04355	B	0.077984	0.02322	N	1.973700	1	0.08975	N	0.11	0.08516	N	2.25	0.17761	T	-0.48	0.15379	N	0.161	0.16864	-0.9941	0.31538	T	0.014	0.05608	T	10	0.0037753582	0.00070	T	.	.	.	0.013	0.01715	.	.	0.0297737177859	0.01360	0.09067344847882812	0.09000	0.13105625566	0.14780	0.287918627262	0.08620	T	0.001754	0.01176	T	-0.765393	0.00014	T	-0.859887	0.00844	T	0.00164817917624442	0.00017	T	0.263374	0.04265	T	0.01385771	0.00072	0.031199833	0.01675	0.01385771	0.00072	0.031199833	0.01675	-3.209	0.12591	T	.	.	0.066	0.02313	B	.	.	-1.476959	0.00309	0.005	0.93255571769026302	0.22947	0.00243	0.01347	N	AEFDBI	0.023133	0.01247	N	-1.2574682187906	0.04202	0.1891989	-1.26791833404371	0.04871	0.2308145	0.254859351864128	0.18722	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.76	-3.17	0.04882	-3.765000	0.00418	-6.632000	0.01346	-1.608000	0.00884	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1621:0.4807:0.0:0.3573	5.202	0.14591	803	0.44167	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.012195	0.000000	0.05	1167.43	41	chr1	3763781	.	C	T	1167.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.343;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=1.2;SOR=0.734	GT:AD:DP:GQ:PL	0/1:56,53:109:99:1179,0,1242	9	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	.	.	.	.	.	.	.	.	0.3571	308.22	27	chr1	7933282	.	T	C	308.22	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.686;DP=268;ExcessHet=3.8694;FS=112.452;InbreedingCoeff=-0.418;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=0.235;SOR=7.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,10:33:47:.:.:47,0,291:.	2	0	5	3
chr1	7970934	7970934	G	A	exonic	PARK7	.	nonsynonymous SNV	PARK7:NM_001123377:exon5:c.G293A:p.R98Q,PARK7:NM_007262:exon5:c.G293A:p.R98Q	Parkinson disease 7, autosomal recessive early-onset, Autosomal recessive	0	1458	62	2	0	66	0.0221328	.	.	.	448380	Autosomal_recessive_early-onset_Parkinson_disease_7|Renal_cysts_and_diabetes_syndrome|not_provided|PARK7-related_disorder|not_specified	MONDO:MONDO:0011658,MedGen:C1853445,OMIM:606324,Orphanet:2828|MONDO:MONDO:0007669,MedGen:C0431693,OMIM:137920,Orphanet:93111|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.202	.	0.0081	0.0061901	0.0081	0.0014	0.0058	0	0.0014	0.0105	0.0077	0.0114	0.0084216	1302	154602	rs71653619	0.0095	0.0095	0.0094	0.0097	0.0189	0.0094	0.0094	0.0160	0.0149	0.0016	0.0061	0.0111	0.0001	0.0013	0.0189	0.0104	0.0094	0.0122	0.0071	0.0071	0.0078	0.0065	0.0114	0.0068	0.0067	0.0107	0.0104	0.0019	0.0208	0.0066	0.0089	0	0.0008	0.0204	0.0114	0.0085	0.0108	0.509	0.07521	T	0.617	0.08594	T	0.005	0.12996	B	0.005	0.11217	B	0.000229	0.47286	N	0.235976	0.983594	0.26640	N	0.56	0.15190	N	-2.07	0.85943	D	-0.23	0.10656	N	0.4	0.44090	-0.8486	0.52065	T	0.232	0.59855	T	10	0.007415384	0.00169	T	.	.	.	0.202	0.48754	.	.	0.595664802742	0.59245	0.6617246050350262	0.66109	0.145711389982	0.16455	0.418447196484	0.27624	T	0.213762	0.57516	T	-0.348376	0.04830	T	-0.258914	0.48934	T	0.00210440679837054	0.00022	T	0.787021	0.44511	T	0.3051896	0.53366	0.11414655	0.27552	0.2824717	0.51284	0.118711516	0.28654	-6.663	0.51531	T	0.10339772836481027	0.07969	0.132	0.30739	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.429467	0.47660	22.5	0.71239704748064825	0.09562	0.94024	0.59884	D	AEFDBI	0.881393	0.80872	D	-0.622150246714128	0.18280	0.9477725	-0.4842833585006	0.22586	1.227488	0.99927417882496	0.38974	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	3.22	0.36041	5.372000	0.65909	8.567000	0.77590	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.222000	0.22517	0.1872:0.0:0.8128:0.0	8.669	0.33303	803	0.44167	DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI	.	.	.	.	.	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	0.015609	0.015152	0.013587	0.011696	0.050000	0.008621	0.018293	0.018939	0.05	915.43	33	chr1	7970934	.	G	A	915.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.42;DP=387;ExcessHet=0;FS=1.926;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.37;SOR=0.887	GT:AD:DP:GQ:PL	0/1:37,36:73:99:927,0,854	9	0	1	0
chr1	8358328	8358328	C	T	exonic	RERE	.	nonsynonymous SNV	RERE:NM_001042682:exon10:c.G2545A:p.A849T,RERE:NM_001042681:exon20:c.G4207A:p.A1403T,RERE:NM_012102:exon21:c.G4207A:p.A1403T	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, Autosomal dominant	428	1093	0	1	0	2	0.000914077	.	.	.	1888139	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.372	0.0564084873557	7.7e-05	.	5.963e-05	0	0.0006	0	0	0	0	0	4.53e-05	7	154602	rs370883107	2.327e-05	2.326e-05	2.724e-05	1.926e-05	0.0003	1.675e-05	1.478e-05	0.0002	0.0002	0	0.0003	0	0.0001	1.889e-05	0	1.079e-05	3.316e-05	1.159e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	0.0004	5.24e-06	2.45e-06	6.823e-05	2.855e-05	0	0	0	0	0.0004	9.413e-05	0	0	0	0	0.001	0.78490	D	0.005	0.72224	D	1.0	0.90584	D	0.977	0.73820	D	.	.	.	.	1	0.81001	D	2.37	0.68279	M	0.07	0.61677	T	-2.99	0.65627	D	0.749	0.79022	-0.3426	0.73768	T	0.366	0.72651	T	9	0.53930676	0.63628	D	0.056408	0.66592	D	0.372	0.69102	.	.	0.683108194731	0.68040	0.7678476255968607	0.76733	0.344135329823	0.36337	0.810183107853	0.83521	D	0.619357	0.88046	D	-0.0618557	0.42618	T	-0.0104719	0.69653	D	0.442956465696816	0.30538	T	0.976102	0.95276	D	0.41389626	0.61683	0.5607001	0.74583	0.41389626	0.61683	0.5607001	0.74583	-10.723	0.79267	D	0.4619676030968965	0.54401	0.485	0.69329	A	.;.;.;.	.;.;.;.	4.857888	0.79462	27.1	0.9992841103956086	0.99222	0.96948	0.71820	D	AEFBHCI	0.666170	0.63473	D	0.651966171653652	0.76496	6.497266	0.608590724689636	0.75561	6.332632	0.999999999995671	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	6.124000	0.71349	4.926000	0.46086	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:1.0:0.0:0.0	18.990	0.92763	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	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1660.43	33	chr1	8358328	.	C	T	1660.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.228;DP=426;ExcessHet=0;FS=1.543;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=2.35;SOR=0.545	GT:AD:DP:GQ:PL	0/1:46,67:113:99:1672,0,983	9	0	1	0
chr1	11922898	11922898	G	A	exonic	KIAA2013	.	nonsynonymous SNV	KIAA2013:NM_138346:exon2:c.C1625T:p.T542I	.	426	1088	8	0	0	8	0.003663	.	.	.	2805719	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00285916216767	0.0042	0.00179712	0.0041	0.0019	0.0035	0	0.0005	0.0055	0.0014	0.0033	0.0006274	97	154602	rs35073764	0.0062	0.0062	0.0063	0.0061	0.0073	0.0061	0.0060	0.0072	0.0071	0.0010	0.0024	0.0032	2.522e-05	0.0014	0.0016	0.0073	0.0052	0.0033	0.0041	0.0041	0.0042	0.0039	0.0068	0.0038	0.0037	0.0063	0.0061	0.0017	0	0.0033	0.0020	0	0.0008	0	0.0068	0.0038	0.0027	0.348	0.13971	T	0.121	0.36901	T	0.195	0.29512	B	0.065	0.27321	B	0.001268	0.39594	N	0.249272	0.992258	0.41596	D	1.67	0.42885	L	.	.	.	-2.32	0.51478	N	0.182	0.19728	-1.0817	0.07022	T	0.066	0.27364	T	9	0.010512382	0.00233	T	0.002859	0.06015	T	0.070	0.20419	.	.	0.110078149338	0.10416	0.7210633728408705	0.72049	.	.	0.547558784485	0.45513	T	0.010214	0.09245	T	-0.500474	0.00568	T	-0.479996	0.24445	T	0.00781692220711704	0.00092	T	0.863014	0.55864	D	0.04122817	0.06034	0.07634458	0.16900	0.04122817	0.06033	0.07634458	0.16900	-5.409	0.41006	T	.	.	0.075	0.07793	B	.;.;.	.;.;.	2.009693	0.25536	16.80	0.98284403757157512	0.39889	0.94406	0.61064	D	AEFDGBI	0.308772	0.41526	N	-0.245005774461428	0.31302	1.753889	-0.0923052406574394	0.35707	2.069022	0.999998753566587	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	2.94	0.33188	2.892000	0.48323	2.544000	0.33230	0.676000	0.76740	0.999000	0.42656	0.999000	0.35428	0.974000	0.55675	0.2907:0.0:0.7093:0.0	8.609	0.32955	764	0.49969	.;.;.	.	.	.	.	.	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	0.001656	0.000000	0.001366	0.000000	0.000000	0.000000	0.003268	0.003968	0.05	593.43	46	chr1	11922898	.	G	A	593.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.86;DP=433;ExcessHet=0;FS=3.997;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=44.02;MQRankSum=-2.072;QD=12.11;ReadPosRankSum=0.788;SOR=0.491	GT:AD:DP:GQ:PL	0/1:28,21:49:99:605,0,840	9	0	1	0
chr1	12719510	12719510	G	A	exonic	AADACL3	.	nonsynonymous SNV	AADACL3:NM_001103170:exon2:c.G204A:p.M68I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0018106224928	.	.	3.312e-05	0	8.639e-05	0	0	4.495e-05	0	0	2.59e-05	4	154602	rs752123416	1.505e-05	1.505e-05	9.529e-06	2.063e-05	6.708e-05	9.85e-06	8.41e-06	1.779e-05	8.93e-06	0	6.708e-05	0	0	0	0	1.619e-05	1.656e-05	0	1.972e-05	1.97e-05	3.854e-05	0	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0.0005	0	0.406	0.10278	T	0.244	0.24123	T	.	.	.	.	.	.	0.304278	0.14544	N	0.689342	1	0.26026	N	.	.	.	2.92	0.09915	T	0.31	0.04022	N	0.274	0.31027	-0.9785	0.35345	T	0.018	0.07282	T	10	0.07839283	0.12488	T	0.001811	0.03115	T	0.034	0.08419	.	.	0.0138822411134	0.00435	0.47112931543939807	0.47031	0.148599470871	0.16762	0.312906146049	0.12346	T	8.6E-4	0.00434	T	-0.362451	0.03994	T	-0.650755	0.08901	T	0.0573030748990795	0.06737	T	0.69513	0.30474	T	0.116775416	0.27538	0.15643778	0.36626	0.116775416	0.27538	0.15643778	0.36626	-2.709	0.07379	T	.	.	0.378	0.58281	A	.	.	1.305584	0.17078	12.95	0.7636709354020188	0.11439	0.02602	0.07171	N	AEFDGBI	0.039777	0.05824	N	-0.744850581974925	0.14774	0.7387975	-0.791298594419147	0.14709	0.7699246	0.78725971503083	0.23952	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.44	3.48	0.38946	0.341000	0.19652	1.847000	0.29229	0.618000	0.50648	0.000000	0.06391	0.007000	0.19602	0.020000	0.11549	0.1681:0.0:0.8319:0.0	6.113	0.19331	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	.	.	.	.	.	.	.	.	0.05	959.43	35	chr1	12719510	.	G	A	959.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.278;DP=433;ExcessHet=0;FS=1.66;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=-1.222;SOR=0.874	GT:AD:DP:GQ:PL	0/1:68,40:108:99:971,0,1870	9	0	1	0
chr1	15518245	15518245	C	T	exonic	CASP9	.	nonsynonymous SNV	CASP9:NM_001229:exon2:c.G283A:p.A95T,CASP9:NM_001278054:exon2:c.G283A:p.A95T,CASP9:NM_032996:exon2:c.G34A:p.A12T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00506188088607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.194	0.27783	T	0.484	0.16086	T	0.073	0.24078	B	0.06	0.26717	B	0.141159	0.18286	N	0.585612	0.999994	0.08975	N	1.24	0.30952	L	4.62	0.07920	T	-0.74	0.21429	N	0.074	0.13769	-0.9358	0.43272	T	0.014	0.05417	T	10	0.053319484	0.05503	T	0.005062	0.12815	T	0.028	0.06331	0.254	0.19378	0.392702134506	0.38879	0.24656893987794953	0.24570	0.116016811942	0.13085	0.25747859478	0.04595	T	0.102883	0.41102	T	-0.256968	0.13258	T	-0.606893	0.12239	T	0.0615760572254658	0.07414	T	0.579442	0.27600	T	0.14816163	0.33838	0.08891712	0.20761	0.14816163	0.33837	0.08891712	0.20760	-3.89	0.22152	T	.	.	0.080	0.27910	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.452592	0.08228	4.965	0.83915295214700614	0.14992	0.14802	0.18593	N	AEFDBI	0.138554	0.25989	N	-1.40255826153729	0.02616	0.1157809	-1.42818620782576	0.02973	0.137829	0.956065343669796	0.28225	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	3.29	1.3	0.20778	-0.072000	0.11446	-0.311000	0.10039	-1.753000	0.00686	0.164000	0.23853	0.002000	0.18203	0.004000	0.06068	0.2166:0.6563:0.0:0.127	4.527	0.11393	911	0.21964	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3	336.1	40	chr1	15518245	.	C	T	336.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-4.497;DP=1203;ExcessHet=4.5998;FS=175.279;InbreedingCoeff=-0.3998;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=1.57;SOR=10.685	GT:AD:DP:GQ:PL	0/1:140,32:172:25:25,0,3426	4	0	6	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	0.5	19915.0	795	chr1	16563946	.	C	T	19915.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.034;DP=5672;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.33;MQRankSum=-8.109;QD=3.62;ReadPosRankSum=0.15;SOR=0.707	GT:AD:DP:GQ:PL	0/1:394,142:536:99:3077,0,11205	0	0	10	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	0.5	25605.0	1089	chr1	16563989	.	G	C	25605.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.602;DP=7782;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.72;MQRankSum=-3.519;QD=3.37;ReadPosRankSum=0.72;SOR=0.713	GT:AD:DP:GQ:PL	0/1:449,310:759:99:6989,0,11778	0	0	10	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	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	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.35	27604.9	1046	chr1	16564107	.	T	G	27604.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.873;DP=6880;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=55.41;MQRankSum=4.65;QD=5.15;ReadPosRankSum=0.56;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:537,201:738:99:.:.:4948,0,16352:.	3	0	7	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	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	0.122310	0.050633	0.116848	0.149573	0.000000	0.129310	0.113475	0.169355	0.15	2935.45	770	chr1	16564112	.	G	A	2935.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.06;DP=6069;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=54.24;MQRankSum=4.23;QD=1.31;ReadPosRankSum=0.23;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:651,67:718:87:.:.:87,0,25107:.	7	0	3	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	51922.0	769	chr1	16564144	.	C	T	51922.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.597;DP=5482;ExcessHet=22.563;FS=1.183;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.28;MQRankSum=-17.39;QD=9.75;ReadPosRankSum=-0.081;SOR=0.807	GT:AD:DP:GQ:PL	0/1:282,256:538:99:6579,0,9793	0	0	10	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	0.45	38369.0	743	chr1	16564149	.	C	T	38369.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.237;DP=5102;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=53.19;MQRankSum=6.51;QD=8.24;ReadPosRankSum=-0.21;SOR=0.699	GT:AD:DP:GQ:PL	0/1:327,189:516:99:4390,0,11858	1	0	9	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	6195.93	32	chr1	16759590	.	G	GC	6195.93	.	AC=14;AF=0.7;AN=20;BaseQRankSum=4.12;DP=691;ExcessHet=0.6204;FS=9.451;InbreedingCoeff=0.0476;MLEAC=14;MLEAF=0.7;MQ=43.53;MQRankSum=-1.968;QD=12.62;ReadPosRankSum=-3.002;SOR=0.893	GT:AD:DP:GQ:PL	1/1:0,19:19:57:676,57,0	1	5	4	0
chr1	16936668	16936668	C	T	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon9:c.C988T:p.R330W	.	.	.	.	.	.	.	.	.	.	.	3962909	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.253	0.0230845918892	.	.	4.789e-05	0.0002	0	0	0	2.947e-05	0	0.0001	2.59e-05	4	154602	rs763931467	3.463e-05	4.036e-05	2.337e-05	4.605e-05	0.0002	2.664e-05	2.404e-05	4.104e-05	2.388e-05	0.0001	0	0	0	3.9e-05	0.0002	3.263e-05	0.0001	1.194e-05	3.281e-05	3.936e-05	1.284e-05	5.367e-05	7.348e-05	1.259e-05	7.97e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.348e-05	0	0	0.0	0.91255	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.962863	0.38315	D	.	.	.	2.51	0.14284	T	-4.35	0.76900	D	0.672	0.67995	-0.9845	0.33951	T	0.089	0.34298	T	9	0.8362621	0.82782	D	0.023085	0.46030	T	0.253	0.56294	.	.	0.449474494731	0.44571	0.06839933730477114	0.06777	0.300726370093	0.32425	0.42711520195	0.28814	T	.	.	.	-0.0330381	0.46973	T	-0.0954968	0.63744	T	0.85059529542923	0.50217	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23883	B	.	.	3.790905	0.54561	23.5	0.99625139836245902	0.75655	0.53335	0.29347	D	AEFDGBI	0.226251	0.35023	N	0.141210095135354	0.48395	3.052418	-0.0094051843963119	0.39289	2.327223	0.227251691628198	0.18424	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.91	1.79	0.23992	1.138000	0.31103	2.723000	0.34327	0.599000	0.40250	0.523000	0.27135	0.993000	0.31925	0.051000	0.15275	0.3225:0.6775:0.0:0.0	11.487	0.49609	846	0.36215	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	434.43	35	chr1	16936668	.	C	T	434.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.42;DP=359;ExcessHet=0;FS=1.192;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.31;SOR=0.99	GT:AD:DP:GQ:PL	0/1:26,18:44:99:446,0,599	9	0	1	0
chr1	19643396	19643396	A	G	exonic	NBL1	.	nonsynonymous SNV	NBL1:NM_182744:exon1:c.A85G:p.R29G	.	.	.	.	.	.	.	.	0.9013	0.534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00226708798022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	3.828e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.161	0.31326	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.4	0.33630	T	-0.56	0.17003	N	0.05	0.02179	-1.0173	0.24592	T	0.042	0.17952	T	7	0.06123826	0.07646	T	0.002267	0.04342	T	0.010	0.01040	0.333	0.32005	0.201204373187	0.19734	0.6965960178630147	0.69600	1.27943491311	0.82487	0.213999539614	0.00993	T	.	.	.	-0.375335	0.03333	T	-0.776919	0.02548	T	0.0894212839268766	0.11148	T	0.464953	0.13579	T	.	.	.	.	.	.	.	.	-3.642	0.18466	T	.	.	0.08	0.07793	B	.	.	1.187502	0.15784	12.10	0.98060356496932422	0.37944	0.00344	0.01781	N	ALL	0.030951	0.03213	N	-0.604433948224878	0.18811	0.9795805	-0.863471969895292	0.12964	0.6699147	0.999999999999996	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	2.35	-2.54	0.05941	0.151000	0.16101	-0.727000	0.07679	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.636000	0.32315	0.4464:0.2126:0.341:0.0	3.699	0.07907	658	0.62094	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	680.43	34	chr1	19643396	.	A	G	680.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.08;DP=385;ExcessHet=0;FS=1.925;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.95;ReadPosRankSum=-0.718;SOR=0.976	GT:AD:DP:GQ:PL	0/1:46,30:76:99:692,0,1264	9	0	1	0
chr1	21847474	21847474	G	A	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon62:c.C8047T:p.R2683W,HSPG2:NM_005529:exon62:c.C8044T:p.R2682W	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	0	1507	15	0	0	15	0.00495213	.	.	.	279337	not_specified|Schwartz-Jampel_syndrome_type_1|Lethal_Kniest-like_syndrome|Connective_tissue_disorder|Schwartz-Jampel_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0100435,MedGen:C4551479,OMIM:255800|MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.549	0.102582270378	0.0019	0.000199681	0.0018	0.0004	0.0003	0	0.0024	0.0028	0.0011	0.0004	0.0018176	281	154602	rs142458572	0.0027	0.0027	0.0026	0.0027	0.0135	0.0026	0.0026	0.0111	0.0102	0.0004	0.0007	0.0044	0	0.0018	0.0135	0.0030	0.0029	0.0003	0.0019	0.0019	0.0021	0.0016	0.0031	0.0017	0.0016	0.0027	0.0026	0.0004	0	0.0008	0.0040	0	0.0015	0.0102	0.0031	0.0047	0.0004	0.017	0.51248	D	0.015	0.61642	D	1.0	0.90584	D	0.999	0.92359	D	0.002521	0.36425	N	0.000000	0.999299	0.46578	D	2.62	0.76659	M	-0.39	0.69158	T	-4.61	0.79060	D	0.834	0.82964	0.177	0.85513	D	0.538	0.82960	D	10	0.14647627	0.27769	T	0.102582	0.77612	D	0.549	0.81310	.	.	0.812045843367	0.81027	0.43439531511610924	0.43356	0.795164481013	0.66010	0.541322946548	0.44632	T	0.550718	0.84783	D	-0.0875025	0.38489	T	0.098796	0.76828	D	0.0298921028318087	0.01973	T	0.90161	0.65783	D	0.25616804	0.48655	0.19854246	0.43692	0.25616804	0.48655	0.19854246	0.43691	-8.79	0.66335	D	.	.	0.178	0.38889	B	.	.	5.194660	0.87129	29.1	0.9988925561517159	0.96359	0.87433	0.46971	D	AEFBCI	0.526241	0.54868	D	0.554004034735775	0.70325	5.485179	0.429565922219069	0.63415	4.574748	0.00419080014304676	0.10449	0.67177	0.52595	0	0.633656	0.55848	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.5	2.4	0.28568	3.152000	0.50375	4.188000	0.42384	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:0.5659:0.4341	12.463	0.55083	840	0.37365	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	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	1	0	0.008560	0.000000	0.010870	0.017647	0.000000	0.017241	0.003049	0.000000	0.05	945.43	35	chr1	21847474	.	G	A	945.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.027;DP=407;ExcessHet=0;FS=5.266;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-0.658;SOR=1.24	GT:AD:DP:GQ:PL	0/1:52,41:93:99:957,0,1252	9	0	1	0
chr1	24383997	24383997	T	C	exonic	STPG1	.	nonsynonymous SNV	STPG1:NM_178122:exon3:c.A55G:p.I19V,STPG1:NM_001199012:exon4:c.A196G:p.I66V,STPG1:NM_001199013:exon4:c.A196G:p.I66V	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.000999487538752	7.7e-05	0.00139776	0.0012	0	0	0	0	0.0003	0.0099	0.0075	0.0010284	159	154602	rs200647962	0.0006	0.0006	0.0004	0.0008	0.0071	0.0006	0.0006	0.0066	0.0064	8.998e-05	0.0001	0	0	1.873e-05	0	0.0002	0.0011	0.0071	0.0004	0.0004	0.0003	0.0006	0.0085	0.0003	0.0003	0.0064	0.0057	0.0001	0	0.0002	0	0	9.413e-05	0.0034	0.0001	0.0009	0.0085	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.967721	0.07758	N	1.016300	1	0.08975	N	0.425	0.12573	N	.	.	.	-0.01	0.07736	N	0.058	0.03392	-0.9887	0.32928	T	0.030	0.13111	T	9	0.005063653	0.00109	T	9.99E-4	0.01073	T	0.112	0.31546	.	.	0.0297737177859	0.01360	0.08984958257102625	0.08917	0.12648458136	0.14259	0.292053699493	0.09221	T	2.8E-4	0.00069	T	-0.623425	0.00105	T	-0.664138	0.07989	T	0.0100376437632676	0.00134	T	0.525647	0.17685	T	0.027524278	0.01957	0.023370385	0.00351	0.027524278	0.01957	0.023370385	0.00351	-2.785	0.09024	T	.	.	0.082	0.10883	B	.;.;.	.;.;.	-0.795522	0.01115	0.051	0.22473242607285895	0.00906	0.04807	0.10528	N	AEFDBCI	0.054485	0.09911	N	-1.78450676094717	0.00584	0.0251692	-1.75847053329432	0.00902	0.04032006	0.999951186397888	0.48110	0.651	0.46895	0	0.624146	0.53433	0	0.65145	0.50148	0	0.563494	0.21769	0	.	.	6.03	-4.14	0.03628	-0.381000	0.07475	-1.950000	0.04446	-1.130000	0.01458	0.000000	0.06391	0.000000	0.08366	0.267000	0.23694	0.0:0.3761:0.2506:0.3733	6.449	0.21091	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	0.001511	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.007576	0.05	913.43	34	chr1	24383997	.	T	C	913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.148;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.23;ReadPosRankSum=0.137;SOR=0.735	GT:AD:DP:GQ:PL	0/1:69,42:111:99:925,0,1754	9	0	1	0
chr1	26191320	26191320	A	G	exonic	CATSPER4	.	nonsynonymous SNV	CATSPER4:NM_198137:exon2:c.A247G:p.M83V	.	415	1079	27	1	0	29	0.0132602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.0890002567253	0.0062	0.00339457	0.0066	0.0023	0.0041	0.0001	0.0018	0.0092	0.0055	0.0062	0.0066235	1024	154602	rs142583631	0.0082	0.0082	0.0082	0.0083	0.0101	0.0081	0.0080	0.0086	0.0085	0.0013	0.0060	0.0251	5.038e-05	0.0020	0.0101	0.0087	0.0101	0.0066	0.0061	0.0061	0.0064	0.0057	0.0086	0.0057	0.0056	0.0080	0.0078	0.0020	0.0077	0.0061	0.0236	0	0.0016	0.0170	0.0086	0.0114	0.0054	0.017	0.51248	D	0.038	0.51421	D	0.278	0.32022	B	0.084	0.29270	B	0.002745	0.36001	N	0.197595	0.768552	0.29462	N	2.28	0.64929	M	-4.32	0.97218	D	-1.13	0.29114	N	0.119	0.10911	0.533	0.91006	D	0.779	0.92481	D	10	0.011005491	0.00242	T	0.089	0.75242	D	0.488	0.77592	.	.	0.877863225903	0.87667	0.4000759279756169	0.39922	0.184010296965	0.20694	0.391340315342	0.23859	T	0.057981	0.30717	T	-0.147869	0.28646	T	0.0252085	0.71966	D	0.0179220966271722	0.00518	T	0.727127	0.34152	T	0.13451928	0.31251	0.16348451	0.37922	0.13451928	0.31251	0.16348451	0.37921	-2.635	0.06774	T	.	.	0.091	0.12891	B	.;.	.;.	1.114159	0.14994	11.50	0.98992797598497251	0.49983	0.70222	0.34502	D	AEFDBI	0.220278	0.34505	N	-0.0325643871325253	0.40383	2.397351	0.0904244237645987	0.44065	2.695558	0.995485200455969	0.34152	0.554377	0.28877	0	0.578056	0.33634	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	1.557000	0.35906	1.442000	0.26535	-0.095000	0.16041	0.910000	0.31679	0.135000	0.23037	0.138000	0.19872	1.0:0.0:0.0:0.0	12.318	0.54289	413	0.81939	.;.	CNKSR1|CNKSR1	Pituitary|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	0.006042	0.005051	0.008152	0.000000	0.000000	0.000000	0.012195	0.011364	0.05	1117.43	69	chr1	26191320	.	A	G	1117.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.543;DP=595;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-1.497;SOR=0.693	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1129,0,1131	9	0	1	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	2219.09	64	chr1	26282357	.	CTGGGGCCGGG	*	2219.09	.	AC=14;AF=0.7;AN=20;DP=410;ExcessHet=1.5895;FS=14.029;InbreedingCoeff=-0.25;MLEAC=14;MLEAF=0.7;MQ=60;QD=5.92;SOR=1.36	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,12:42:99:0|1:26282278_C_T:372,0,1175:26282278	0	4	6	0
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	1943.22	77	chr1	26282386	.	GCCGGGA	*	1943.22	.	AC=3;AF=0.188;AN=16;BaseQRankSum=0.129;DP=487;ExcessHet=2.8389;FS=11.565;InbreedingCoeff=-0.4379;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=6.87;ReadPosRankSum=1.35;SOR=0.328	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,35:64:99:0|1:26282278_C_T:1328,0,1043:26282278	5	0	3	2
chr1	31684159	31684159	C	T	exonic	COL16A1	.	nonsynonymous SNV	COL16A1:NM_001856:exon32:c.G2233A:p.G745S	.	384	1127	10	1	0	12	0.00529568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.802	.	0.0048	0.0161741	0.0107	0.0070	0.0018	0.0924	0.0465	0.0059	0	0.0071	0.0050193	776	154602	rs34770879	0.0056	0.0056	0.0056	0.0055	0.0428	0.0055	0.0054	0.0410	0.0403	0.0041	0.0013	0.0005	0.0428	0.0233	0.0025	0.0037	0.0099	0.0048	0.0077	0.0077	0.0069	0.0086	0.0599	0.0074	0.0072	0.0545	0.0523	0.0046	0	0.0025	0.0003	0.0599	0.0270	0.0034	0.0045	0.0066	0.0064	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	0.999842	0.49770	D	4.04	0.96988	H	-4.59	0.99321	D	-5.96	0.89211	D	0.954	0.96302	0.328	0.87999	D	0.954	0.98497	D	10	0.005669534	0.00126	T	.	.	.	0.802	0.93543	.	.	0.935797211501	0.93513	0.6373130916019192	0.63665	0.155481381707	0.17549	0.69817340374	0.66881	T	0.125655	0.65007	T	0.164547	0.70622	D	0.508375	0.94817	D	0.104977028647165	0.12895	T	0.960304	0.96302	D	0.8319353	0.86037	0.7904442	0.87673	0.8319353	0.86039	0.7904442	0.87674	-14.775	0.95303	D	.	.	0.253	0.54653	B	.;.	.;.	4.329691	0.66332	24.9	0.98617893667159107	0.43731	0.91905	0.54517	D	AEFDBHCI	0.722313	0.67228	D	0.865826348512691	0.89990	10.20486	0.714916726334186	0.83512	8.040875	0.999999999995919	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.440796	0.06475	0	0.584449	0.35598	0	.	.	5.49	5.49	0.81022	1.871000	0.39176	7.642000	0.63248	0.537000	0.25018	0.619000	0.27905	1.000000	0.68203	0.205000	0.22041	0.0:1.0:0.0:0.0	15.250	0.73227	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	0.007812	0.005618	0.009777	0.003030	0.000000	0.008929	0.012579	0.000000	0.05	641.43	35	chr1	31684159	.	C	T	641.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.34;DP=399;ExcessHet=0;FS=1.878;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.64;ReadPosRankSum=1.3;SOR=0.928	GT:AD:DP:GQ:PL	0/1:55,29:84:99:653,0,1295	9	0	1	0
chr1	31684597	31684597	G	C	exonic	COL16A1	.	nonsynonymous SNV	COL16A1:NM_001856:exon31:c.C2086G:p.P696A	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	0.0765955497944	8.4e-05	.	2.522e-05	0	0	0	0	4.584e-05	0	0	1.94e-05	3	154602	rs377043093	8.21e-06	8.209e-06	5.446e-06	1.1e-05	0.0002	4.38e-06	3.46e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.993e-06	1.656e-05	0	2.629e-05	2.627e-05	0	5.382e-05	6.543e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.543e-05	0	0	0	0	4.411e-05	0	0	0.03	0.54683	D	0.154	0.53788	T	0.573	0.44546	P	0.429	0.53151	B	0.002267	0.36887	N	0.248268	0.876289	0.35661	D	1.835	0.48228	L	-3.28	0.93691	D	-3.15	0.72820	D	0.437	0.47580	0.878	0.95380	D	0.819	0.93916	D	10	0.5891465	0.66281	D	0.076596	0.72570	D	0.421	0.73005	.	.	0.829241270865	0.82761	0.17754249720578824	0.17673	0.151647942823	0.17117	0.496607005596	0.38354	T	0.425452	0.89230	T	0.054015	0.58859	T	-0.0965418	0.63665	T	0.357451170682907	0.27309	T	0.806319	0.82717	T	0.08333024	0.19237	0.09757449	0.23231	0.08333024	0.19237	0.09757449	0.23231	-6.166	0.47647	T	.	.	0.060	0.01762	B	.;.	.;.	2.298529	0.29410	18.11	0.84922125092697331	0.15578	0.70850	0.34763	D	AEFBCI	0.179001	0.30628	N	0.136567376358042	0.48175	3.033292	0.106858944528845	0.44898	2.762788	0.999998487998514	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.638833	0.57524	0	.	.	5.34	5.34	0.75982	1.897000	0.39430	8.692000	0.78080	0.676000	0.76740	0.971000	0.34370	1.000000	0.68203	0.012000	0.09680	0.0:0.0:1.0:0.0	14.931	0.70564	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	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1306.43	36	chr1	31684597	.	G	C	1306.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.82;DP=411;ExcessHet=0;FS=3.139;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=0.2;SOR=0.721	GT:AD:DP:GQ:PL	0/1:29,48:77:99:1318,0,620	9	0	1	0
chr1	36308165	36308165	G	C	exonic	SH3D21	.	nonsynonymous SNV	SH3D21:NM_024676:exon5:c.G262C:p.E88Q,SH3D21:NM_001162530:exon8:c.G595C:p.E199Q	.	416	1105	1	0	0	1	0.000452284	.	.	.	3917812	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.457	0.032545809901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.157e-07	6.84e-07	0	1.451e-06	9.277e-07	0	0	.	.	0	0	0	0	0	0	9.277e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	U	0.000000	0.994069	0.81001	D	.	.	.	2.02	0.21119	T	-2.79	0.59059	D	0.797	0.79310	-0.1456	0.79026	T	0.369	0.72864	T	10	0.81062025	0.80350	D	0.032546	0.54343	D	0.457	0.75551	.	.	0.422404719673	0.41854	0.7739890387523245	0.77348	0.399734681576	0.40989	0.546814799309	0.45408	T	.	.	.	0.103483	0.64667	D	-0.0891309	0.64227	T	0.994969308376312	0.86599	D	0.963304	0.86724	D	.	.	.	.	.	.	.	.	-10.773	0.79201	D	.	.	0.932	0.85185	P	.;.	.;.	4.733840	0.76271	26.5	0.99791992960063036	0.87750	0.95059	0.63288	D	AEFDBI	0.535457	0.55407	D	0.718595445744955	0.80852	7.386906	0.591027773745826	0.74295	6.112795	0.999999996599715	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.517000	0.66777	11.865000	0.98423	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.589000	0.31115	0.0:0.0:1.0:0.0	14.188	0.65160	126	0.94940	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1089.43	53	chr1	36308165	.	G	C	1089.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.077;DP=466;ExcessHet=0;FS=3.985;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.083;SOR=0.368	GT:AD:DP:GQ:PL	0/1:43,48:91:99:1101,0,1031	9	0	1	0
chr1	42929978	42929978	T	G	exonic	SLC2A1	.	nonsynonymous SNV	SLC2A1:NM_006516:exon5:c.A574C:p.I192L	Dystonia 9, Autosomal dominant;GLUT1 deficiency syndrome 1, infantile onset, severe, Autosomal recessive, Autosomal dominant;GLUT1 deficiency syndrome 2, childhood onset, Autosomal dominant;Stomatin-deficient cryohydrocytosis with neurologic defects, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1924097	GLUT1_deficiency_syndrome_1,_autosomal_recessive	MedGen:C3149117	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.289	0.0195864361954	.	.	3.301e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs746393667	7.525e-06	7.524e-06	4.084e-06	1.1e-05	0.0001	4.04e-06	2.95e-06	7.124e-05	5.482e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000351	0.45440	D	0.263785	0.987856	0.24473	N	-1.09	0.01018	N	-1.47	0.81067	T	0.73	0.02068	N	0.306	0.34552	-0.9059	0.47343	T	0.102	0.37718	T	10	0.05052632	0.04798	T	0.019586	0.41992	T	0.289	0.60808	0.492	0.57890	0.657462711111	0.65460	0.3843957323784535	0.38354	0.892597622271	0.70285	0.326517850161	0.14409	T	0.360833	0.72701	T	-0.249157	0.14202	T	-0.321373	0.42424	T	0.00682215022509561	0.00077	T	0.839116	0.51273	T	0.0949636	0.22339	0.05095242	0.08103	0.0949636	0.22339	0.05095242	0.08103	-0.955	0.00951	T	0.0478990902359329	0.00718	0.085	0.10400	B	.	.	0.626891	0.09953	6.710	0.63440208245592966	0.07224	0.39773	0.26288	N	AEFBHCI	0.172851	0.29990	N	-1.38338385166213	0.02794	0.12387	-1.24306483178187	0.05235	0.2489247	0.999999469750395	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.16	-5.39	0.02457	0.294000	0.18803	-1.494000	0.05313	-0.120000	0.14102	0.123000	0.23227	0.000000	0.08366	0.983000	0.59808	0.1944:0.6054:0.0:0.2002	7.833	0.28515	396	0.82953	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	.	.	.	.	.	.	.	.	0.05	2280.43	39	chr1	42929978	.	T	G	2280.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.328;DP=580;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=0.46;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,101:240:99:1|0:42929964_C_T:2292,0,5284:42929964	9	0	1	0
chr1	43977343	43977343	C	T	exonic	ATP6V0B	.	nonsynonymous SNV	ATP6V0B:NM_001294333:exon7:c.C718T:p.P240S	.	416	1098	8	0	0	8	0.00362976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	0.00179712	0.0019	0	0.0014	0	0	0.0003	0.0140	0.0053	0.0005498	85	154602	rs144973199	0.0005	0.0005	0.0004	0.0006	0.0047	0.0005	0.0005	0.0043	0.0041	6.222e-05	0.0003	0.0001	0	0	0.0016	0.0003	0.0008	0.0047	0.0004	0.0004	0.0004	0.0004	0.0035	0.0003	0.0003	0.0022	0.0018	4.811e-05	0	0.0016	0	0	0	0	0.0002	0.0009	0.0035	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.35	0.12847	N	0.126	0.11912	-1.0155	0.25175	T	0.044	0.19029	T	6	0.0036219954	0.00066	T	.	.	.	0.007	0.00512	.	.	0.043077524339	0.03247	0.4359435098946122	0.43511	.	.	.	.	.	0.008229	0.07566	T	-0.545466	0.00310	T	-0.55576	0.16777	T	0.00511638632547428	0.00055	T	0.481352	0.14557	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07602	B	.	.	-0.016545	0.04170	1.005	0.85239337389978642	0.15770	0.07734	0.13735	N	AEFBCI	0.071916	0.14335	N	-1.10842491069673	0.06492	0.2990216	-1.18576299632909	0.06147	0.294978	0.999379009753806	0.39355	0.608746	0.35421	0	0.627608	0.54475	0	0.486962	0.07600	0	0.322989	0.05693	1	.	.	3.4	0.383	0.15462	-1.321000	0.02805	-0.865000	0.07126	-0.204000	0.08590	0.000000	0.06391	0.000000	0.08366	0.210000	0.22183	0.0:0.5161:0.235:0.2489	3.731	0.08019	308	0.87611	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1760.43	36	chr1	43977343	.	C	T	1760.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=471;ExcessHet=0;FS=0.635;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.065;SOR=0.779	GT:AD:DP:GQ:PL	0/1:73,69:142:99:1772,0,1722	9	0	1	0
chr1	43995943	43995943	G	A	exonic	CCDC24	.	nonsynonymous SNV	CCDC24:NM_001349129:exon7:c.G305A:p.R102Q,CCDC24:NM_001349128:exon8:c.G743A:p.R248Q,CCDC24:NM_001349127:exon9:c.G703A:p.G235S,CCDC24:NM_152499:exon9:c.G707A:p.R236Q	.	420	1057	43	2	0	47	0.0217492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.0005	0.00399361	0.0032	0.0004	0.0003	0.0003	0	0.0010	0.0088	0.0182	0.0027425	424	154602	rs142384645	0.0018	0.0018	0.0012	0.0024	0.0182	0.0017	0.0017	0.0175	0.0172	0.0004	0.0004	0.0010	0.0002	5.62e-05	0.0153	0.0007	0.0025	0.0182	0.0011	0.0011	0.0008	0.0014	0.0172	0.0010	0.0009	0.0142	0.0131	9.621e-05	0	0.0008	0.0023	0.0004	0	0.0204	0.0007	0.0033	0.0172	0.662	0.04671	T	0.429	0.13752	T	0.003	0.11197	B	0.001	0.04355	B	0.320142	0.04069	N	1.550060	1	0.08975	N	-1.1	0.00987	N	.	.	.	0.13	0.05503	N	0.032	0.00825	-1.0559	0.12803	T	0.029	0.12409	T	9	0.001950413	0.00027	T	.	.	.	0.008	0.00669	.	.	0.0954503805726	0.09146	0.07001160870663188	0.06938	0.0444665148545	0.04800	0.235512048006	0.02400	T	6.65E-4	0.00291	T	-0.773633	0.00012	T	-0.869767	0.00744	T	0.000264297947003674	0.00002	T	0.620638	0.23835	T	0.022738144	0.00958	0.025527406	0.00600	0.022738144	0.00958	0.025527406	0.00600	-3.716	0.19555	T	.	.	0.063	0.01555	B	.	.	-0.148397	0.03363	0.598	0.7658612605579761	0.11527	0.01631	0.05259	N	AEFBCI	0.083598	0.16937	N	-1.65262587755734	0.01024	0.04440356	-1.69864411206519	0.01143	0.05141937	0.999789365406696	0.43007	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	4.5	-7.55	0.01185	-1.475000	0.02441	-0.405000	0.09385	-0.196000	0.09079	0.000000	0.06391	0.000000	0.08366	0.124000	0.19330	0.1656:0.1152:0.4911:0.228	1.925	0.03114	318	0.87072	.	.	.	.	.	.	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	0.011581	0.000000	0.010870	0.029240	0.050000	0.000000	0.009146	0.015152	0.05	1735.43	33	chr1	43995943	.	G	A	1735.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.45;DP=450;ExcessHet=0;FS=0.626;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.321;SOR=0.791	GT:AD:DP:GQ:PL	0/1:78,64:142:99:1747,0,1836	9	0	1	0
chr1	46030732	46030732	C	A	exonic	MAST2	.	nonsynonymous SNV	MAST2:NM_001319245:exon22:c.C2679A:p.D893E,MAST2:NM_001324321:exon22:c.C2217A:p.D739E,MAST2:NM_015112:exon22:c.C2679A:p.D893E,MAST2:NM_001324320:exon23:c.C2700A:p.D900E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0199605274156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.934e-07	1.368e-06	0	1.395e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.12837	T	0.567	0.12957	T	0.001	0.07471	B	0.005	0.11217	B	0.000006	0.62929	N	0.103873	0.958592	0.39122	D	1.62	0.41497	L	0.01	0.63077	T	-1.32	0.32991	N	0.139	0.17002	-1.0808	0.07194	T	0.118	0.41560	T	10	0.15230301	0.28772	T	0.019961	0.42451	T	0.169	0.43123	0.106	0.01810	0.629319392303	0.62629	0.31942604366470034	0.31855	0.182875825819	0.20567	0.533089518547	0.43470	T	0.009774	0.08877	T	-0.241489	0.15159	T	-0.584658	0.14132	T	0.535818755626678	0.33949	D	0.825317	0.49916	T	0.05016656	0.09022	0.035994753	0.02959	0.05016656	0.09021	0.035994753	0.02959	-3.439	0.15587	T	.	.	0.136	0.29560	B	.;.;.	.;.;.	1.762343	0.22416	15.61	0.96750325304630314	0.30957	0.96505	0.69474	D	AEFBI	0.438609	0.49793	N	-0.598467812313085	0.18992	0.9904715	-0.535431819696536	0.21194	1.145363	0.0560714513731315	0.15041	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.86	-1.93	0.07180	0.266000	0.18300	0.360000	0.17566	0.599000	0.40250	0.973000	0.34540	0.989000	0.31174	0.856000	0.40543	0.1147:0.4829:0.1193:0.2831	2.476	0.04296	90	0.96275	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	508.43	40	chr1	46030732	.	C	A	508.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.041;DP=393;ExcessHet=0;FS=3.302;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.06;ReadPosRankSum=-0.651;SOR=0.544	GT:AD:DP:GQ:PL	0/1:47,25:72:99:520,0,1187	9	0	1	0
chr1	46613215	46613215	G	C	exonic	MOB3C	.	nonsynonymous SNV	MOB3C:NM_145279:exon2:c.C107G:p.A36G,MOB3C:NM_201403:exon2:c.C107G:p.A36G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.0139583808919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.01	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	.	.	.	-3.89	0.72820	D	0.774	0.77132	0.264	0.86973	D	0.557	0.83845	D	9	0.6686675	0.70580	D	0.013958	0.33748	T	0.582	0.83193	0.642	0.77903	0.707347941332	0.70479	0.38905998175117595	0.38820	0.572858510513	0.53358	0.764638364315	0.76621	T	0.131582	0.46340	T	0.285581	0.81788	D	0.172441	0.81555	D	0.994002064544445	0.85055	D	0.990601	0.97065	D	0.75960207	0.81429	0.73670983	0.84438	0.75960207	0.81431	0.73670983	0.84440	-7.806	0.59740	D	.	.	0.649	0.77163	P	.;.;.	.;.;.	4.951349	0.81797	27.6	0.99793096647677015	0.87839	0.96467	0.69283	D	AEFDBHCI	0.898988	0.84287	D	0.950088505148483	0.93988	12.421	0.892121511922027	0.95220	13.41926	1.0	0.98316	0.660085	0.49399	0	0.662677	0.63036	0	0.735289	0.94003	0	0.683762	0.67416	0	.	.	5.31	5.31	0.75063	9.951000	0.98966	11.917000	0.99728	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.964	0.89013	173	0.93306	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	41.52	144	chr1	46613215	.	G	C	41.52	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.228;DP=1291;ExcessHet=0;FS=117.538;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=1.04;SOR=9.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:115,40:155:51:.:.:51,0,2118:.	6	0	1	3
chr1	52033427	52033427	C	T	exonic	KTI12	.	nonsynonymous SNV	KTI12:NM_138417:exon1:c.G335A:p.G112D	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00784579660146	0.0013	0.000599042	0.0008	0.0004	8.728e-05	0	0	0.0014	0	0	0.000718	111	154602	rs144575218	0.0019	0.0019	0.0020	0.0018	0.0023	0.0018	0.0018	0.0022	0.0022	0.0003	0.0002	0.0020	0	7.588e-05	0.0005	0.0023	0.0021	3.491e-05	0.0012	0.0012	0.0013	0.0010	0.0021	0.0010	0.0010	0.0018	0.0017	0.0004	0	0.0008	0.0014	0	9.407e-05	0	0.0021	0	0	0.364	0.11770	T	0.575	0.08654	T	0.001	0.07471	B	0.003	0.08700	B	0.704001	0.06219	N	1.244690	0.999953	0.19072	N	-0.19	0.04217	N	0.98	0.42122	T	0.15	0.05310	N	0.139	0.13769	-1.0244	0.22279	T	0.059	0.24686	T	10	0.0054050684	0.00119	T	0.007846	0.20824	T	0.094	0.27141	.	.	0.244539031024	0.24083	0.26972453496800286	0.26885	0.724652031395	0.62407	0.504876077175	0.39507	T	7.04E-4	0.00319	T	-0.579834	0.00193	T	-0.624682	0.10821	T	0.0051122949867276	0.00055	T	0.456654	0.13107	T	0.053273782	0.10058	0.0651081	0.13147	0.053273782	0.10058	0.0651081	0.13146	-4.677	0.33125	T	.	.	0.092	0.13409	B	.	.	1.014391	0.13936	10.50	0.92251775185873508	0.21632	0.11547	0.16706	N	ALL	0.074654	0.14969	N	-1.08647870511419	0.06891	0.3185622	-1.10579114106223	0.07589	0.3697296	0.999999999994987	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.83	-0.434	0.11670	0.982000	0.29137	0.133000	0.15072	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.065000	0.16320	0.0:0.5495:0.1432:0.3073	5.533	0.16283	448	0.79501	.	.	.	.	.	.	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	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1236.43	35	chr1	52033427	.	C	T	1236.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.544;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.633;SOR=0.668	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1248,0,1487	9	0	1	0
chr1	52361541	52361546	TCCTCC	-	exonic	CC2D1B	.	nonframeshift deletion	CC2D1B:NM_001330585:exon4:c.285_290del:p.E96_E97del,CC2D1B:NM_032449:exon4:c.285_290del:p.E96_E97del	.	395	1107	16	4	0	24	0.0107239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0777	0.00698882	0.0068	0.0008	0.0058	0	0.0011	0.0074	0.0094	0.0146	0.0047641	124	26028	rs530661837	0.0077	0.0077	0.0075	0.0079	0.0137	0.0076	0.0075	0.0124	0.0121	0.0010	0.0064	0.0041	0	0.0011	0.0137	0.0082	0.0078	0.0130	0.0058	0.0058	0.0064	0.0051	0.0128	0.0055	0.0053	0.0102	0.0093	0.0015	0	0.0071	0.0064	0	0.0010	0	0.0089	0.0057	0.0128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1530.39	35	chr1	52361540	.	TTCCTCC	T	1530.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.838;DP=418;ExcessHet=0;FS=1.727;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=1.17;SOR=0.956	GT:AD:DP:GQ:PL	0/1:51,41:92:99:1542,0,1946	9	0	1	0
chr1	65918827	65918827	C	A	exonic	PDE4B	.	nonsynonymous SNV	PDE4B:NM_001037341:exon3:c.C273A:p.S91R,PDE4B:NM_002600:exon3:c.C273A:p.S91R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0056647794725	.	.	.	.	.	.	.	.	.	.	.	.	.	rs930611504	1.386e-06	5.474e-06	2.762e-06	0	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.132e-07	0	1.164e-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	0.188	0.21304	T	0.313	0.19539	T	0.002	0.09854	B	0.006	0.12133	B	0.450132	0.12518	N	0.770400	0.825475	0.28828	N	0.975	0.24501	L	2.3	0.16953	T	-0.72	0.20358	N	0.213	0.23758	-1.0047	0.28547	T	0.014	0.05369	T	10	0.109785825	0.20494	T	0.005665	0.14651	T	0.025	0.05312	0.223	0.14665	0.102598925029	0.09809	.	.	0.527046185779	0.50316	0.709200382233	0.68478	T	0.203894	0.56250	T	-0.216868	0.18422	T	-0.549293	0.17393	T	0.38453778649189	0.28357	T	0.483852	0.14720	T	0.21276075	0.43637	0.203509	0.44430	0.21276075	0.43637	0.203509	0.44429	-5.297	0.39913	T	.	.	0.241	0.47492	B	.;.	.;.	3.356473	0.46317	22.3	0.98189762484663534	0.39018	0.88112	0.47899	D	AEFBI	0.469538	0.51587	N	-0.136516051235787	0.35810	2.061693	0.0883164132709285	0.43958	2.687029	0.0113609981597073	0.12171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.6	5.6	0.84997	2.057000	0.40991	4.828000	0.45175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8468:0.1532:0.0	13.855	0.63017	828	0.39726	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	695.43	35	chr1	65918827	.	C	A	695.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.085;DP=380;ExcessHet=0;FS=0.973;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=0.044;SOR=0.56	GT:AD:DP:GQ:PL	0/1:44,30:74:99:707,0,1188	9	0	1	0
chr1	81990583	81990583	G	A	exonic	ADGRL2	.	nonsynonymous SNV	ADGRL2:NM_012302:exon20:c.G3650A:p.R1217Q,ADGRL2:NM_001297704:exon21:c.G3650A:p.R1217Q,ADGRL2:NM_001330645:exon21:c.G3689A:p.R1230Q,ADGRL2:NM_001366002:exon21:c.G3650A:p.R1217Q,ADGRL2:NM_001350698:exon23:c.G3830A:p.R1277Q,ADGRL2:NM_001366005:exon24:c.G3848A:p.R1283Q,ADGRL2:NM_001366006:exon24:c.G3848A:p.R1283Q,ADGRL2:NM_001366003:exon28:c.G3830A:p.R1277Q,ADGRL2:NM_001366004:exon28:c.G3830A:p.R1277Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.168777901214	.	.	2.473e-05	0	8.655e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs760725709	3.01e-05	3.01e-05	3.267e-05	2.75e-05	6.708e-05	2.282e-05	2.032e-05	2.116e-05	1.862e-05	5.974e-05	6.708e-05	0	2.519e-05	0	0	2.968e-05	3.312e-05	3.478e-05	6.573e-06	6.568e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000024	0.55875	D	0.067473	0.999984	0.81001	D	.	.	.	-0.81	0.75789	T	-2.41	0.54059	N	0.701	0.77319	0.086	0.83919	D	0.487	0.80476	T	10	0.43535274	0.57757	T	0.168778	0.84678	D	0.580	0.83081	0.683	0.82078	0.322284741503	0.31843	0.6662609490396535	0.66564	0.570300441152	0.53190	0.638867974281	0.58403	T	0.085222	0.75553	T	-0.0213883	0.48656	T	-0.0869714	0.64389	T	0.487673619112053	0.32178	T	0.99518	0.98360	D	0.39867127	0.60640	0.39794812	0.64397	0.39867127	0.60641	0.39794812	0.64397	-3.571	0.18277	T	.	.	0.211	0.56560	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.029575	0.83645	28.1	0.9993200393897701	0.99439	0.93735	0.59041	D	AEFGBCI	0.944275	0.95115	D	0.568524904709652	0.71218	5.617405	0.561871206693233	0.72228	5.776728	0.999957633456103	0.48110	0.706548	0.73137	0	0.573888	0.26702	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.78	4.86	0.62624	7.760000	0.84095	11.936000	0.99985	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:0.8655:0.1345	16.166	0.81568	963	0.08280	GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal;.;.;GPCR, family 2, latrophilin, C-terminal;.;.;.;GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, 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	.	.	.	.	.	.	.	.	0.05	2397.43	33	chr1	81990583	.	G	A	2397.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.8;DP=707;ExcessHet=0;FS=3.388;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=1.38;SOR=0.75	GT:AD:DP:GQ:PL	0/1:93,88:181:99:2409,0,2241	9	0	1	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	.	.	.	.	.	.	.	.	0.35	1448.14	72	chr1	85158757	.	C	G	1448.14	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.334;DP=723;ExcessHet=15.1594;FS=160.488;InbreedingCoeff=-0.8658;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=2.56;ReadPosRankSum=0.981;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,11:63:30:.:.:30,0,1597:.	3	0	7	0
chr1	85730622	85730622	A	G	exonic	COL24A1	.	nonsynonymous SNV	COL24A1:NM_001349955:exon60:c.T2969C:p.I990T,COL24A1:NM_152890:exon60:c.T5069C:p.I1690T	.	438	1080	4	0	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0009	0.00119808	0.0021	0	0.0003	0	0.0162	0.0015	0.0022	0.0022	0.0017788	275	154602	rs189025471	0.0015	0.0015	0.0014	0.0016	0.0023	0.0014	0.0014	0.0021	0.0020	0.0001	0.0002	0	0	0.0162	0.0005	0.0009	0.0014	0.0023	0.0017	0.0017	0.0012	0.0022	0.0019	0.0015	0.0015	0.0011	0.0010	2.405e-05	0	0.0003	0	0	0.0146	0	0.0013	0.0005	0.0019	0.102	0.30235	T	0.045	0.49390	D	0.006	0.13644	B	0.034	0.22546	B	0.001829	0.37892	N	0.000000	0.979951	0.25146	N	1.28	0.32218	L	-0.74	0.73205	T	-2.06	0.47175	N	0.109	0.09490	-0.9892	0.32803	T	0.114	0.40490	T	10	0.005934775	0.00133	T	.	.	.	0.079	0.23065	.	.	0.539251968656	0.53577	0.36120485589810514	0.36034	0.0436724569655	0.04704	0.369047820568	0.20696	T	0.086233	0.37679	T	-0.45802	0.01011	T	-0.433112	0.29582	T	0.0222092066859869	0.00933	T	0.456654	0.13107	T	0.057280067	0.11379	0.0721206	0.15522	0.057280067	0.11378	0.0721206	0.15521	-7.1	0.54760	T	.	.	0.056	0.00505	B	.	.	1.799983	0.22880	15.80	0.8314468362838997	0.14566	0.80909	0.40429	D	AEFBI	0.321263	0.42412	N	-0.408003121458458	0.25188	1.365493	-0.280666387387541	0.28735	1.604495	0.961502386616491	0.28559	0.693126	0.56070	0	0.659464	0.62310	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.58	3.3	0.36912	1.806000	0.38530	1.878000	0.29433	-0.045000	0.17359	0.708000	0.28703	0.929000	0.28499	0.879000	0.42020	0.8469:0.0:0.1531:0.0	8.855	0.34381	677	0.60274	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, 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	.	.	.	.	.	.	.	.	0.05	1207.43	34	chr1	85730622	.	A	G	1207.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.123;DP=402;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=2.72;SOR=0.695	GT:AD:DP:GQ:PL	0/1:42,49:91:99:1219,0,979	9	0	1	0
chr1	103620563	103620563	G	A	exonic	AMY2A	.	nonsynonymous SNV	AMY2A:NM_000699:exon5:c.G757A:p.G253S	.	486	1033	3	0	0	3	0.00144998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.822	0.271201252309	0.0002	.	0.0017	0.0002	8.767e-05	0	0.0002	0.0029	0.0022	0.0005	0.0002305	6	26028	rs142529431	0.0005	0.0021	0.0005	0.0005	0.0012	0.0005	0.0004	0.0005	0.0005	5.998e-05	0.0001	0.0011	0	0.0004	0.0012	0.0005	0.0004	0.0002	0.0008	0.0017	0.0010	0.0006	0.0014	0.0007	0.0006	0.0012	0.0011	0.0002	0	0.0001	0.0026	0	0.0006	0	0.0014	0	0.0002	0.012	0.54683	D	0.1	0.38742	T	0.902	0.49745	P	0.569	0.49832	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.93	0.84523	M	-4.71	0.98035	D	-4.84	0.81030	D	0.788	0.78451	1.028	0.97675	D	0.914	0.97157	D	10	0.38705865	0.54618	T	0.271201	0.89885	D	0.872	0.96170	.	.	0.953785314089	0.95329	0.5180351664296993	0.51726	3.21115196292	0.99499	0.702695846558	0.67534	T	0.711773	0.91784	D	-0.00969737	0.50309	T	0.118208	0.78117	D	0.500755786895752	0.32657	D	0.986501	0.95398	D	0.85266435	0.87533	0.8054428	0.88611	0.85266435	0.87534	0.8054428	0.88612	-11.647	0.83089	D	.	.	0.308	0.54868	B	.;.	.;.	5.221420	0.87634	29.3	0.99615060051095927	0.75052	0.97932	0.78226	D	AEFI	0.947153	0.95740	D	0.515687858728527	0.68018	5.159648	0.426984453647574	0.63251	4.555308	0.948775723305939	0.27815	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	2.96	2.96	0.33383	9.412000	0.96668	8.230000	0.76836	0.320000	0.19365	1.000000	0.71638	1.000000	0.68203	0.580000	0.30894	0.0:0.0:1.0:0.0	13.973	0.63768	796	0.45353	Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, catalytic domain;Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, 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	0.000610	0.000000	0.001377	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	257.43	35	chr1	103620563	.	G	A	257.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.071;DP=484;ExcessHet=0;FS=3.772;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=33.8;MQRankSum=2.72;QD=1.51;ReadPosRankSum=0.983;SOR=0.414	GT:AD:DP:GQ:PL	0/1:140,30:170:99:269,0,3375	9	0	1	0
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	.	.	.	.	.	.	.	.	0.125	317.64	86	chr1	110222977	.	C	G	317.64	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.896;DP=1036;ExcessHet=0;FS=119.203;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.19;ReadPosRankSum=3.16;SOR=7.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,31:145:99:0|1:110222977_C_G:324,0,3817:110222977	3	0	1	6
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	.	.	.	.	.	.	.	.	0.05	309.43	37	chr1	110222980	.	C	G	309.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.322;DP=872;ExcessHet=0;FS=118.755;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=2.97;SOR=7.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,31:146:99:0|1:110222977_C_G:321,0,3824:110222977	9	0	1	0
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	.	.	.	.	.	.	.	.	0.5	2536.04	155	chr1	114732648	.	C	G	2536.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.921;DP=1438;ExcessHet=22.563;FS=272.517;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=1.34;SOR=12.553	GT:AD:DP:GQ:PL	0/1:84,32:132:99:155,0,1216	0	0	10	0
chr1	119764542	119764542	G	T	exonic	HMGCS2	.	nonsynonymous SNV	HMGCS2:NM_001166107:exon2:c.C189A:p.F63L,HMGCS2:NM_005518:exon2:c.C189A:p.F63L	HMG-CoA synthase-2 deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.0457106978412	.	.	8.253e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs758019802	2.736e-06	2.736e-06	2.722e-06	2.75e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.013	0.63109	D	0.997	0.70673	D	0.943	0.67921	D	0.000160	0.49130	N	0.089011	0.999627	0.50225	D	2.535	0.73915	M	-2.34	0.87989	D	-5.11	0.83092	D	0.846	0.85449	0.239	0.86567	D	0.656	0.88038	D	10	0.8837979	0.87699	D	0.045711	0.62114	D	0.636	0.86078	0.691	0.82843	0.932709626313	0.93202	0.8342802113016511	0.83387	0.5538335945	0.52143	0.704160630703	0.67746	T	0.837318	0.96173	D	0.199698	0.73863	D	0.0645615	0.74548	D	0.9870285987854	0.77604	D	0.977102	0.91996	D	0.8621596	0.88250	0.79511756	0.87964	0.8621596	0.88252	0.79511756	0.87965	-10.736	0.78190	D	0.4241938193110277	0.51246	0.913	0.87226	P	.;.	.;.	3.408290	0.47264	22.4	0.9936384079206606	0.61113	0.93284	0.57806	D	AEFGBI	0.814148	0.73644	D	0.299277597196204	0.56111	3.775505	0.177155490280299	0.48598	3.073584	0.985088937955679	0.30826	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.72	0.121	0.13999	0.914000	0.28246	0.555000	0.19457	0.618000	0.50648	1.000000	0.71638	0.993000	0.31925	0.998000	0.85391	0.5054:0.0:0.4946:0.0	8.289	0.31108	803	0.44167	Hydroxymethylglutaryl-coenzyme A synthase, 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	.	.	.	.	.	.	.	.	0.05	1313.43	41	chr1	119764542	.	G	T	1313.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.785;DP=448;ExcessHet=0;FS=3.511;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=0.444;SOR=0.416	GT:AD:DP:GQ:PL	0/1:69,53:122:99:1325,0,1845	9	0	1	0
chr1	120816099	120816099	G	A	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon9:c.G1321A:p.D441N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00097419413534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.56192	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.124	0.15328	-1.0188	0.24106	T	0.025	0.10777	T	8	0.048446983	0.04297	T	7.12E-4	0.00454	T	.	.	.	.	0.0297737177859	0.01360	0.020359854757450356	0.01988	.	.	.	.	.	.	.	.	-0.282378	0.10417	T	-0.643393	0.09424	T	0.0640454941201747	0.07789	T	0.682032	0.31835	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.29004	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.805171	0.22940	15.82	0.9127789475015925	0.20537	0.01850	0.05723	N	AEFBI	0.042780	0.06680	N	-1.29728425791866	0.03708	0.1661352	-1.3836809281763	0.03425	0.1597536	0.986366715889318	0.31051	0.562547	0.31514	0	0.588066	0.40923	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	0.394	-0.788	0.10387	0.921000	0.28338	.	.	0.221000	0.18078	0.810000	0.29852	.	.	0.022000	0.11911	.	.	.	964	0.07719	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	.	.	.	.	.	.	.	.	0.05	200.17	37	chr1	120816099	.	G	A	200.17	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.733;DP=237;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1116;MLEAC=1;MLEAF=0.05;MQ=26.01;MQRankSum=0.567;QD=7.7;ReadPosRankSum=0.312;SOR=0.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,7:12:99:.:.:175,0,118:.	9	0	1	0
chr1	144905899	144905899	C	T	exonic	SRGAP2B	.	nonsynonymous SNV	SRGAP2B:NM_001385227:exon5:c.G599A:p.R200Q,SRGAP2B:NM_001385228:exon5:c.G392A:p.R131Q,SRGAP2B:NM_001271870:exon6:c.G662A:p.R221Q,SRGAP2B:NM_001366280:exon6:c.G662A:p.R221Q,SRGAP2B:NM_001330684:exon7:c.G203A:p.R68Q,SRGAP2B:NM_001368324:exon7:c.G203A:p.R68Q,SRGAP2B:NM_001385226:exon7:c.G752A:p.R251Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1242352697	7.459e-05	7.157e-05	7.327e-05	7.571e-05	0.0005	5.582e-05	5.034e-05	0.0003	0.0002	0	0	0	0.0005	0	0	1.265e-05	0.0005	0.0001	7.59e-05	7.269e-05	9.417e-05	5.666e-05	0.0012	4.165e-05	3.269e-05	0.0005	0.0004	8.251e-05	0	0	0.0003	0.0012	0	0	1.487e-05	0	0	.	.	.	0.077	0.46182	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	0.41162	.	.	.	.	.	.	.	0.73665535	0.74667	D	.	.	.	.	.	.	.	.	.	0.5641967205493277	0.56346	.	.	.	.	.	0.170938	0.51887	T	.	.	.	.	.	.	.	.	.	0.99758	0.99030	D	.	.	.	.	.	.	.	.	-14.193	0.93667	D	.	.	0.753	0.79447	P	.;.;.	.;.;.	5.033087	0.83719	28.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.735000	0.83874	7.663000	0.64347	0.284000	0.18682	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	.	.	.	614	0.66605	F-BAR domain;F-BAR domain;F-BAR 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	.	.	.	.	.	.	.	.	0.05	122.45	20	chr1	144905899	.	C	T	122.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.28;DP=163;ExcessHet=0;FS=9.756;InbreedingCoeff=-0.0543;MLEAC=1;MLEAF=0.05;MQ=28.62;MQRankSum=3.35;QD=7.65;ReadPosRankSum=-0.283;SOR=1.864	GT:AD:DP:GQ:PL	0/1:11,5:16:99:134,0,244	9	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	.	.	.	.	.	.	.	.	0.3	864.97	118	chr1	145872713	.	C	G	864.97	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-2.812;DP=1235;ExcessHet=4.5998;FS=146.997;InbreedingCoeff=-0.4278;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.198;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,28:121:99:0|1:145872713_C_G:158,0,2750:145872713	4	0	6	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	.	.	.	.	.	.	.	.	0.3	816.97	118	chr1	145872714	.	C	G	816.97	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.066;DP=1182;ExcessHet=4.5998;FS=151.643;InbreedingCoeff=-0.4278;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=1.04;SOR=10.074	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,28:121:99:0|1:145872713_C_G:158,0,2750:145872713	4	0	6	0
chr1	146019387	146019387	C	-	exonic	HJV	.	frameshift deletion	HJV:NM_145277:exon2:c.106delG:p.D36Tfs*97,HJV:NM_001379352:exon3:c.445delG:p.D149Tfs*97,HJV:NM_213653:exon3:c.445delG:p.D149Tfs*97	.	.	.	.	.	.	.	.	.	.	.	1318616	not_provided|Hemochromatosis_type_2A	MedGen:C3661900|MONDO:MONDO:0011216,MedGen:C1865614,OMIM:602390,Orphanet:79230	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.79e-06	4.788e-06	6.808e-06	2.751e-06	5.396e-06	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1756.39	34	chr1	146019386	.	TC	T	1756.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.658;DP=408;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.19;ReadPosRankSum=0.164;SOR=0.749	GT:AD:DP:GQ:PL	0/1:36,51:87:99:1768,0,1191	9	0	1	0
chr1	148533189	148533189	C	G	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon66:c.G8276C:p.R2759T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1405098496	0.0001	8.16e-05	0.0001	0.0001	0.0004	0.0001	0.0001	4.019e-05	2.608e-05	0	0	0.0029	0	0	0.0004	3.793e-05	0.0005	0.0001	0.0001	0.0001	0.0001	8.418e-05	2.328e-05	5.788e-05	4.325e-05	.	.	0	0	0	0.0034	0	0	0	2.328e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.12	0.08106	T	.	.	.	0.265	0.40465	.	.	.	.	.	.	.	0.084970474	0.14297	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.941106	0.84101	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.53518	B	.;.;.;.;.;.	.;.;.;.;.;.	0.692871	0.10613	7.318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.295000	0.08335	-2.136000	0.04160	0.200000	0.17917	0.904000	0.31524	0.000000	0.08366	0.028000	0.12845	.	.	.	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;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	169.46	2	chr1	148533189	.	C	G	169.46	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.18;DP=42;ExcessHet=0;FS=5.441;InbreedingCoeff=-0.1183;MLEAC=1;MLEAF=0.05;MQ=31.27;MQRankSum=-1.068;QD=24.21;ReadPosRankSum=0.366;SOR=2.225	GT:AD:DP:GQ:PL	0/1:1,6:7:20:180,0,20	9	0	1	0
chr1	148577219	148577219	C	G	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon14:c.G1990C:p.E664Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00150840756542	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386974827	1.296e-05	9.049e-06	1.605e-05	1.031e-05	1.915e-05	5.39e-06	3.46e-06	7.88e-06	5.52e-06	0	0	0	0	0	0	1.915e-05	3.386e-05	0	2.084e-05	1.976e-05	0	4.314e-05	0.0002	5.54e-06	2.54e-06	5.1e-06	1.91e-06	0	0	0	0	0	0	0	3.071e-05	0	0.0002	.	.	.	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.94	0.09728	T	.	.	.	0.158	0.16447	.	.	.	.	.	.	.	0.072913855	0.10948	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	.	.	.	.	.	.	.	.	.	.	-0.296156	0.09028	T	-0.663184	0.08053	T	0.0818734423207617	0.10226	T	0.744526	0.39759	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.54012	B	.;.;.;.	.;.;.;.	0.982907	0.13607	10.14	0.98075069468308873	0.38062	0.00498	0.02351	N	AEFI	0.040375	0.05997	N	-0.801446166560038	0.13272	0.6527124	-1.0468353998989	0.08773	0.4329927	1.35326974368458E-6	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	0.046875	0.06002	.	.	.	0.295000	0.18821	-0.220000	0.10772	0.289000	0.18753	0.002000	0.15269	0.007000	0.19602	0.002000	0.04165	.	.	.	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;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	.	.	.	.	.	.	.	.	0.05	234.43	27	chr1	148577219	.	C	G	234.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.81;DP=177;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=31.87;MQRankSum=-0.393;QD=14.65;ReadPosRankSum=1.2;SOR=0.458	GT:AD:DP:GQ:PL	0/1:7,9:16:99:246,0,191	9	0	1	0
chr1	148679517	148679518	GG	-	exonic	NOTCH2NLB	.	frameshift deletion	NOTCH2NLB:NM_001364007:exon1:c.17_18del:p.P6Rfs*27	.	298	1222	2	0	0	2	0.000817661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1234415772	7.696e-05	0.0012	8.46e-05	6.912e-05	0.0007	6.28e-05	5.812e-05	0.0004	0.0003	0.0002	0	5.349e-05	0.0007	0.0001	0	5.205e-05	9.434e-05	0.0002	0.0003	0.0042	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	0.0005	0	0.0004	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	33.17	12	chr1	148679516	.	CGG	C	33.17	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.142;DP=53;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=54.92;MQRankSum=-1.644;QD=2.07;ReadPosRankSum=0.558;SOR=0.693	GT:AD:DP:GQ:PL	0/1:14,2:16:42:42,0,574	6	0	1	3
chr1	149027610	149027610	G	A	exonic	PDE4DIP	.	nonsynonymous SNV	PDE4DIP:NM_001350520:exon36:c.G7138A:p.E2380K,PDE4DIP:NM_001198834:exon40:c.G6652A:p.E2218K,PDE4DIP:NM_014644:exon40:c.G6652A:p.E2218K,PDE4DIP:NM_001350522:exon41:c.G6493A:p.E2165K,PDE4DIP:NM_001198832:exon42:c.G6334A:p.E2112K,PDE4DIP:NM_001350521:exon42:c.G6946A:p.E2316K,PDE4DIP:NM_001350523:exon42:c.G6331A:p.E2111K,PDE4DIP:NM_001377392:exon43:c.G7063A:p.E2355K,PDE4DIP:NM_001377393:exon43:c.G6520A:p.E2174K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.874e-06	6.158e-06	1.865e-05	0	1.144e-05	2.08e-06	1.4e-06	3.04e-06	8.4e-07	0	0	0	0	0	0	1.144e-05	3.916e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.51853	T	0.016	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.71	0.01655	T	-1.67	0.40468	N	0.4	0.45992	.	.	.	.	.	.	.	0.3101698	0.48497	T	.	.	.	.	.	.	.	.	.	0.6219760564125469	0.62130	.	.	.	.	.	0.12008	0.44206	T	.	.	.	.	.	.	.	.	.	0.777822	0.42989	T	.	.	.	.	.	.	.	.	-4.942	0.37045	T	.	.	0.150	0.33273	B	.;.;.;.;.	.;.;.;.;.	3.797223	0.54692	23.5	.	.	.	.	.	.	0.377230	0.46108	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.996000	0.56722	3.827000	0.39978	0.590000	0.31872	0.445000	0.26527	0.982000	0.30508	0.179000	0.21265	.	.	.	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	.	.	.	.	.	.	.	.	0.05	65.55	2	chr1	149027610	.	G	A	65.55	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.598;DP=23;ExcessHet=0;FS=0;InbreedingCoeff=-0.1707;MLEAC=1;MLEAF=0.05;MQ=25.7;MQRankSum=1.15;QD=10.92;ReadPosRankSum=1.96;SOR=0.693	GT:AD:DP:GQ:PL	0/1:3,3:6:71:75,0,71	9	0	1	0
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	.	.	.	.	.	.	.	.	0.35	7396.95	178	chr1	149075685	.	C	A	7396.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=1.26;DP=3367;ExcessHet=7.0302;FS=5.633;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=47.89;MQRankSum=-6.342;QD=2.9;ReadPosRankSum=-2.292;SOR=1.254	GT:AD:DP:GQ:PL	0/1:219,94:313:99:1920,0,5904	3	0	7	0
chr1	151365215	151365215	A	G	exonic	SELENBP1	.	nonsynonymous SNV	SELENBP1:NM_001258288:exon9:c.T925C:p.S309P,SELENBP1:NM_001258289:exon10:c.T1237C:p.S413P,SELENBP1:NM_003944:exon10:c.T1111C:p.S371P	.	435	1080	7	0	0	7	0.00323027	.	.	.	2343757	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.00620693835847	.	.	8.66e-06	0	0	0	0	1.561e-05	0	0	1.29e-05	2	154602	rs776010271	4.994e-05	4.994e-05	5.582e-05	4.401e-05	0.0017	4.059e-05	3.734e-05	0.0009	0.0007	0	0	0	2.519e-05	0	0.0017	3.238e-05	0.0002	0.0002	7.228e-05	7.219e-05	8.998e-05	5.377e-05	0.0002	3.971e-05	3.127e-05	4.767e-05	3.34e-05	0	0	6.542e-05	0	0	0	0.0068	0.0001	0	0.0002	0.302	0.14400	T	0.292	0.21011	T	0.001	0.07471	B	0.009	0.14300	B	0.379221	0.13413	N	0.741751	1	0.08975	N	1.195	0.30194	L	.	.	.	-2.3	0.51157	N	0.216	0.24135	-1.0642	0.10736	T	0.043	0.18410	T	9	0.13605133	0.25886	T	0.006207	0.16288	T	0.025	0.05312	.	.	0.0884992946249	0.08302	0.5852307225278948	0.58453	0.112956299353	0.12750	0.350427240133	0.17984	T	0.063629	0.32225	T	-0.36888	0.03651	T	-0.530978	0.19188	T	0.0654764915367856	0.08000	T	0.735426	0.37284	T	0.2994287	0.52853	0.30029455	0.56063	0.2994287	0.52853	0.30029455	0.56062	-7.626	0.58492	D	.	.	0.239	0.54071	B	.;.;.	.;.;.	1.547971	0.19842	14.46	0.94343161350669724	0.24685	0.18456	0.20268	N	AEFDGBHCI	0.802127	0.72764	D	-0.700391730785641	0.16011	0.8120018	-0.776124346542676	0.15082	0.7913802	0.941577400920548	0.27483	0.631515	0.41029	0	0.615948	0.52940	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.59	2.17	0.26736	-0.180000	0.09747	2.666000	0.33914	0.756000	0.94297	0.000000	0.06391	0.006000	0.19429	0.688000	0.33778	0.6863:0.3137:0.0:0.0	10.435	0.43616	242	0.90534	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002717	0.000000	0.000000	0.000000	0.006098	0.003788	0.05	731.43	33	chr1	151365215	.	A	G	731.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.961;DP=396;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-0.587;SOR=0.782	GT:AD:DP:GQ:PL	0/1:44,33:77:99:743,0,1015	9	0	1	0
chr1	152108961	152108961	T	C	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.A4256G:p.E1419G	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00260118809853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.841e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	6.595e-06	6.577e-06	0	1.35e-05	6.563e-05	0	0	.	.	0	0	6.563e-05	0	0	0	0	0	0	0	0.024	0.47745	D	0.004	0.74150	D	0.59	0.39078	P	0.243	0.38752	B	.	.	.	.	0.987891	0.24469	N	2.67	0.78151	M	3.15	0.07820	T	-1.89	0.44094	N	0.24	0.27077	-0.9643	0.38350	T	0.011	0.03949	T	9	0.114938974	0.21639	T	0.002601	0.05263	T	0.044	0.11924	0.198	0.11110	0.436239592564	0.43243	0.045007362408155116	0.04444	0.310527836263	0.33367	0.263199031353	0.05277	T	0.002802	0.02196	T	-0.232126	0.16367	T	-0.571209	0.15339	T	0.22076390683651	0.21502	T	0.369963	0.08710	T	0.14727755	0.33676	0.1336607	0.32045	0.14727755	0.33676	0.1336607	0.32044	-9.041	0.67961	D	.	.	0.259	0.49334	B	.;.	.;.	2.704624	0.35341	19.87	0.96137975778728635	0.28826	0.10850	0.16236	N	AEFDBCIJ	0.086029	0.17442	N	-0.419309755473364	0.24793	1.341202	-0.501336365154178	0.22118	1.199726	0.999999330353058	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	4.59	3.45	0.38602	1.415000	0.34355	.	.	0.573000	0.29008	0.011000	0.18532	0.000000	0.08366	0.021000	0.11733	0.0:0.0982:0.0:0.9018	8.244	0.30839	478	0.77585	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	3392.43	174	chr1	152108961	.	T	C	3392.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.118;DP=1546;ExcessHet=0;FS=0.426;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=1.8;SOR=0.656	GT:AD:DP:GQ:PL	0/1:148,141:289:99:3404,0,3977	9	0	1	0
chr1	152154911	152154911	C	T	exonic	RPTN	.	nonsynonymous SNV	RPTN:NM_001122965:exon3:c.G2188A:p.D730N	.	409	1111	2	0	0	2	0.000899281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00302839162828	.	.	4.157e-05	0	8.654e-05	0	0	6.032e-05	0	0	3.23e-05	5	154602	rs201520409	3.694e-05	3.694e-05	3.539e-05	3.85e-05	0.0023	2.894e-05	2.592e-05	0.0013	0.0011	2.987e-05	8.944e-05	0.0004	0	0	0.0023	1.619e-05	9.934e-05	2.319e-05	1.973e-05	1.97e-05	1.286e-05	2.693e-05	1.47e-05	5.25e-06	2.46e-06	.	.	0	0	0	0.0006	0	0	0	1.47e-05	0	0	0.36	0.11919	T	0.607	0.07766	T	0.217	0.30183	B	0.033	0.22329	B	0.292414	0.14744	U	0.490781	1	0.08975	N	1.32	0.33002	L	2.48	0.14657	T	-1.54	0.37375	N	0.066	0.03841	-0.9213	0.45376	T	0.006	0.02018	T	10	0.035672426	0.01827	T	0.003028	0.06517	T	0.046	0.12618	.	.	0.20549828249	0.20151	0.010060484311307674	0.00968	0.0214910408985	0.02133	0.285068035126	0.08208	T	0.011589	0.10317	T	-0.552086	0.00283	T	-0.833838	0.01196	T	0.0306084417375897	0.02085	T	0.453055	0.12870	T	0.034144305	0.03773	0.027009929	0.00824	0.034144305	0.03773	0.027009929	0.00824	-5.093	0.37834	T	.	.	0.099	0.16713	B	.	.	0.670709	0.10390	7.116	0.56259121675468471	0.05514	0.04632	0.10298	N	AEFDBI	0.041827	0.06411	N	-1.04814276197741	0.07624	0.3547919	-1.07565911549557	0.08181	0.4011323	2.03072527400247E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.39	1.29	0.20717	0.011000	0.13162	.	.	0.500000	0.22704	0.016000	0.19238	0.000000	0.08366	0.025000	0.12405	0.1646:0.6352:0.0:0.2002	5.018	0.13689	635	0.64580	.	.	.	.	.	.	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	0.100000	0.008621	0.000000	0.000000	0.05	6535.43	34	chr1	152154911	.	C	T	6535.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.007;SOR=0.674	GT:AD:DP:GQ:PL	0/1:219,239:458:99:6547,0,5834	9	0	1	0
chr1	152213889	152213891	GTG	-	exonic	HRNR	.	nonframeshift deletion	HRNR:NM_001009931:exon3:c.7738_7740del:p.H2580del	.	590	927	5	0	0	5	0.00268962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1230403957	1.296e-05	0.0004	1.166e-05	1.414e-05	0.0001	5.39e-06	3.46e-06	5.23e-05	3.541e-05	0	0	0	0	0	0	2.882e-06	0	0.0001	4.628e-05	0.0003	1.762e-05	7.797e-05	0.0013	1.753e-05	1.182e-05	0.0004	0.0003	4.282e-05	0	0	0	0	0	0	0	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	147.39	33	chr1	152213888	.	CGTG	C	147.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.21;DP=358;ExcessHet=0;FS=3.938;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=24.54;MQRankSum=0.543;QD=2.83;ReadPosRankSum=0.349;SOR=1.596	GT:AD:DP:GQ:PL	0/1:45,7:52:99:159,0,1868	9	0	1	0
chr1	152218723	152218723	C	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G2906C:p.R969T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00159344688998	.	.	1.647e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs753942220	5.473e-06	5.472e-06	4.084e-06	6.875e-06	2.319e-05	2.35e-06	1.7e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	5.396e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.22746	T	0.841	0.03600	T	0.009	0.15093	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.39	0.34934	L	4.5	0.02032	T	-0.39	0.13611	N	0.112	0.09914	-0.9264	0.44659	T	0.002	0.00585	T	9	0.05594623	0.06195	T	0.001593	0.02548	T	0.020	0.03691	0.29	0.25081	0.296329037015	0.29243	0.004171480446521937	0.00391	.	.	0.512784838676	0.40611	T	0.013828	0.11884	T	-0.43206	0.01440	T	-0.761546	0.03057	T	0.0269625631066341	0.01539	T	0.265873	0.04359	T	0.042343643	0.06404	0.034914605	0.02644	0.042343643	0.06404	0.034914605	0.02644	-9.75	0.72402	D	.	.	0.116	0.23360	B	.	.	0.542166	0.09109	5.891	0.31238569485553008	0.01750	0.05233	0.11064	N	AEFBI	0.032047	0.03545	N	-1.04772395869185	0.07633	0.3552046	-1.08458956544809	0.08003	0.3916459	1.9027249639652E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.71	1.77	0.23848	0.127000	0.15617	.	.	0.433000	0.20966	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6741:0.2074:0.1185	5.309	0.15129	570	0.70478	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	6112.43	304	chr1	152218723	.	C	G	6112.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.984;DP=2627;ExcessHet=0;FS=0.519;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.78;MQRankSum=-0.279;QD=12.87;ReadPosRankSum=0.744;SOR=0.661	GT:AD:DP:GQ:PL	0/1:220,255:475:99:6124,0,5328	9	0	1	0
chr1	152351526	152351526	T	C	exonic	FLG2	.	nonsynonymous SNV	FLG2:NM_001014342:exon3:c.A6260G:p.H2087R	.	434	1048	40	0	0	40	0.0187266	.	.	.	2805939	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.024	.	0.0038	0.00479233	0.0068	0.0012	0.0097	0	0.0008	0.0057	0.0121	0.0187	0.0062677	969	154602	rs141384852	0.0066	0.0066	0.0059	0.0073	0.0319	0.0065	0.0065	0.0281	0.0267	0.0014	0.0071	0.0051	5.05e-05	0.0005	0.0319	0.0063	0.0071	0.0182	0.0043	0.0043	0.0047	0.0039	0.0132	0.0040	0.0039	0.0106	0.0096	0.0016	0.0011	0.0051	0.0029	0.0002	0.0009	0.0104	0.0059	0.0091	0.0132	0.064	0.36509	T	0.246	0.23984	T	0.015	0.17086	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	0.99	0.25021	L	1.18	0.37746	T	-1.78	0.42001	N	0.2	0.22098	-0.9826	0.34398	T	0.025	0.10777	T	9	0.00496462	0.00106	T	.	.	.	0.024	0.04979	.	.	0.132336055621	0.12781	0.05537557425557988	0.05478	0.212961028099	0.23803	0.307520180941	0.11533	T	0.006229	0.05666	T	-0.556913	0.00265	T	-0.558464	0.16521	T	0.00240712079536758	0.00025	T	0.310869	0.06046	T	0.049321175	0.08740	0.052928723	0.08818	0.049321175	0.08740	0.052928723	0.08818	-8.854	0.66752	D	.	.	0.131	0.28261	B	.	.	1.380453	0.17916	13.44	0.79875974500555302	0.12941	0.06125	0.12103	N	AEFBCI	0.036976	0.05012	N	-1.05045716834564	0.07579	0.3525285	-1.07817471328921	0.08131	0.398442	2.41949346052646E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.69	2.29	0.27658	0.107000	0.15212	.	.	-0.668000	0.04312	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.1717:0.0939:0.0:0.7344	4.430	0.10947	565	0.70868	.	.	.	.	.	.	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	0.027551	0.045455	0.019022	0.037975	0.100000	0.025862	0.018293	0.018939	0.05	6125.43	201	chr1	152351526	.	T	C	6125.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.717;DP=1247;ExcessHet=0;FS=0.522;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.89;MQRankSum=0.386;QD=10.31;ReadPosRankSum=0.104;SOR=0.749	GT:AD:DP:GQ:PL	0/1:330,264:594:99:6137,0,8505	9	0	1	0
chr1	152687091	152687091	G	A	exonic	LCE2B	.	nonsynonymous SNV	LCE2B:NM_014357:exon2:c.G248A:p.R83Q	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0088	0.0103834	0.0028	0.0344	0.0007	0	0	1.525e-05	0.0011	6.066e-05	0.002749	425	154602	rs28391399	0.0009	0.0009	0.0010	0.0008	0.0329	0.0008	0.0008	0.0313	0.0306	0.0329	0.0010	0	5.038e-05	0	0.0017	1.619e-05	0.0019	5.798e-05	0.0091	0.0091	0.0092	0.0089	0.0319	0.0087	0.0085	0.0305	0.0299	0.0319	0	0.0027	0	0	0	0	1.472e-05	0.0052	0.0006	0.0	0.91255	D	0.158	0.31629	T	0.194	0.29493	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	2.035	0.55589	M	3.72	0.04014	T	-1.66	0.39692	N	0.187	0.20395	-0.9437	0.42025	T	0.005	0.01797	T	9	0.0033533573	0.00058	T	.	.	.	0.091	0.26358	.	.	0.110078149338	0.10416	0.02670578154572866	0.02620	0.00259469205085	0.00220	0.268126726151	0.05898	T	0.074495	0.34951	T	-0.684484	0.00045	T	-0.731616	0.04254	T	0.0219270622814454	0.00900	T	0.518148	0.16784	T	0.1451331	0.33283	0.110738404	0.26704	0.1451331	0.33283	0.110738404	0.26704	-7.499	0.57603	T	.	.	0.126	0.26638	B	.	.	1.967885	0.24995	16.60	0.82369535310228204	0.14156	0.01425	0.04802	N	AEFBI	0.035403	0.04552	N	-0.8315240622838	0.12509	0.6101967	-0.97117169402519	0.10435	0.5256032	1.15541404896304E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.28	0.068	0.13679	0.196000	0.16979	.	.	0.342000	0.19800	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1754:0.0:0.5487:0.276	2.704	0.04838	772	0.48957	.	.	.	.	.	.	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	0.002717	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	2533.43	36	chr1	152687091	.	G	A	2533.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.09;DP=490;ExcessHet=0;FS=0.563;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.32;MQRankSum=-1.545;QD=14.73;ReadPosRankSum=-1.14;SOR=0.777	GT:AD:DP:GQ:PL	0/1:79,93:172:99:2545,0,1848	9	0	1	0
chr1	153776127	153776127	C	-	exonic	SLC27A3	.	frameshift deletion	SLC27A3:NM_001317929:exon1:c.630delC:p.R211Afs*25,SLC27A3:NM_024330:exon1:c.630delC:p.R211Afs*25	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	181.39	30	chr1	153776126	.	TC	T	181.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.647;DP=268;ExcessHet=0;FS=2.035;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.89;ReadPosRankSum=1.54;SOR=0.208	GT:AD:DP:GQ:PL	0/1:16,7:23:99:193,0,520	9	0	1	0
chr1	155613731	155613731	C	T	exonic	MSTO1	.	nonsynonymous SNV	MSTO1:NM_001256532:exon13:c.C1463T:p.P488L,MSTO1:NM_001256533:exon13:c.C1463T:p.P488L,MSTO1:NM_001350772:exon13:c.C1463T:p.P488L,MSTO1:NM_001350775:exon13:c.C1463T:p.P488L,MSTO1:NM_001350776:exon13:c.C1298T:p.P433L,MSTO1:NM_001350777:exon13:c.C932T:p.P311L,MSTO1:NM_001350778:exon13:c.C932T:p.P311L,MSTO1:NM_001350779:exon13:c.C932T:p.P311L,MSTO1:NM_001350780:exon13:c.C929T:p.P310L,MSTO1:NM_001350781:exon13:c.C929T:p.P310L,MSTO1:NM_001350782:exon13:c.C929T:p.P310L,MSTO1:NM_001350783:exon13:c.C929T:p.P310L,MSTO1:NM_001350784:exon13:c.C920T:p.P307L,MSTO1:NM_001350785:exon13:c.C920T:p.P307L,MSTO1:NM_001350787:exon13:c.C920T:p.P307L,MSTO1:NM_001350788:exon13:c.C929T:p.P310L,MSTO1:NM_001350789:exon13:c.C920T:p.P307L,MSTO1:NM_018116:exon13:c.C1463T:p.P488L	.	439	1068	15	0	0	15	0.0069735	.	.	.	1666768	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.016	.	0.0002	.	0.0036	0	0.0038	0	0	0.0015	0.0067	0.0146	3.84e-05	1	26028	rs371544149	0.0012	0.0020	0.0009	0.0014	0.0081	0.0011	0.0011	0.0076	0.0074	5.979e-05	0.0012	3.855e-05	5.04e-05	7.513e-05	0.0054	0.0008	0.0011	0.0081	0.0004	0.0008	0.0003	0.0004	0.0038	0.0003	0.0003	0.0024	0.0020	0.0001	0	0.0003	0	0	0	0	0.0004	0.0010	0.0038	0.297	0.24661	T	0.301	0.20486	T	0.001	0.18677	B	0.0	0.11217	B	0.288099	0.14819	N	0.678176	1	0.81001	D	0.345	0.11182	N	1.0	0.44856	T	-0.78	0.21644	N	0.101	0.15469	-0.9575	0.39644	T	0.015	0.05994	T	10	0.014746696	0.00310	T	.	.	.	0.016	0.02506	.	.	0.0986583533028	0.09354	0.22886159292364927	0.22801	1.92971752332	0.93121	0.345399171114	0.17243	T	0.00542	0.04871	T	-0.600092	0.00146	T	-0.628652	0.10516	T	0.0033788561413463	0.00036	T	0.632737	0.24712	T	0.021096935	0.00696	0.018753054	0.00065	0.021096935	0.00695	0.018753054	0.00065	-1.94	0.17582	T	.	.	0.069	0.13268	B	.;.	.;.	1.294612	0.16958	12.87	0.58853663848333626	0.06088	0.02482	0.06953	N	AEFGBI	0.065274	0.12723	N	-1.38921320159355	0.02738	0.1213502	-1.39531347365755	0.03301	0.1537373	4.84865797646949E-5	0.03989	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	2.65	1.48	0.21900	0.578000	0.23476	1.800000	0.28874	-0.304000	0.06167	0.003000	0.16062	0.314000	0.24288	0.002000	0.04165	0.7133:0.2867:0.0:0.0	5.718	0.17238	79	0.96716	.;.	.	.	.	.	.	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	0.005896	0.000000	0.004098	0.017391	0.000000	0.008929	0.003704	0.000000	0.05	188.43	34	chr1	155613731	.	C	T	188.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.266;DP=399;ExcessHet=0;FS=2.334;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=30.5;MQRankSum=-1.144;QD=2.42;ReadPosRankSum=-0.47;SOR=0.427	GT:AD:DP:GQ:PL	0/1:62,16:78:99:200,0,1473	9	0	1	0
chr1	156130624	156130624	A	C	exonic	LMNA	.	nonsynonymous SNV	LMNA:NM_001257374:exon2:c.A28C:p.K10Q,LMNA:NM_001282626:exon2:c.A364C:p.K122Q,LMNA:NM_005572:exon2:c.A364C:p.K122Q,LMNA:NM_170707:exon2:c.A364C:p.K122Q,LMNA:NM_170708:exon2:c.A364C:p.K122Q,LMNA:NM_001282624:exon3:c.A121C:p.K41Q,LMNA:NM_001282625:exon5:c.A364C:p.K122Q	Cardiomyopathy, dilated, 1A, Autosomal dominant;Charcot-Marie-Tooth disease, type 2B1, Autosomal recessive;Emery-Dreifuss muscular dystrophy 2, AD, Autosomal dominant;Emery-Dreifuss muscular dystrophy 3, AR, Autosomal recessive;Heart-hand syndrome, Slovenian type, Autosomal dominant;Hutchinson-Gilford progeria, Autosomal recessive, Autosomal dominant;Lipodystrophy, familial partial, type 2, Autosomal dominant;Malouf syndrome, Autosomal dominant;Mandibuloacral dysplasia, Autosomal recessive;Muscular dystrophy, congenital, Autosomal dominant;Muscular dystrophy, limb-girdle, type 1B, Autosomal dominant;Restrictive dermopathy, lethal, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	941493	Charcot-Marie-Tooth_disease_type_2	MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.785	0.700936323316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.004	0.74150	D	0.995	0.90584	D	0.923	0.88582	D	0.000011	0.62929	D	0.000000	1	0.81001	D	3.195	0.89043	M	-2.5	0.89219	D	-3.62	0.69593	D	0.742	0.78927	0.883	0.95446	D	0.831	0.94323	D	10	0.8462578	0.83791	D	0.700936	0.97553	D	0.785	0.92868	0.476	0.55342	0.95379636513	0.95330	0.9347807112865993	0.93458	2.17208794008	0.95515	0.734671473503	0.72190	T	0.948675	0.99245	D	0.251363	0.78729	D	0.123289	0.78453	D	0.997497737407684	0.91692	D	0.927907	0.84692	D	0.90443045	0.91782	0.8361415	0.90585	0.90443045	0.91783	0.8361415	0.90586	-8.22	0.62828	D	0.8656807242806425	0.92787	0.617	0.72737	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.828728	0.78718	27.0	0.99489176942466961	0.67347	0.81985	0.41285	D	AEFGBHCI	0.977621	0.99731	D	0.94125837257953	0.93628	12.16762	0.884790392516744	0.94874	13.11609	1.0	0.98316	0.675202	0.55065	0	0.696144	0.67643	0	0.779548	0.98927	0	0.756233	0.99697	0	.	.	5.59	5.59	0.84677	9.277000	0.94963	11.226000	0.89934	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	1.0:0.0:0.0:0.0	13.718	0.62189	447	0.79583	.;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.;.;Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod 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	.	.	.	.	.	.	.	.	0.05	1535.43	35	chr1	156130624	.	A	C	1535.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=460;ExcessHet=0;FS=2.184;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.357;SOR=0.944	GT:AD:DP:GQ:PL	0/1:76,62:138:99:1547,0,1909	9	0	1	0
chr1	156540761	156540761	T	C	exonic	IQGAP3	.	nonsynonymous SNV	IQGAP3:NM_178229:exon23:c.A2686G:p.N896D	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00580005554818	7.7e-05	.	3.295e-05	0	0	0	0	2.997e-05	0	0.0001	4.53e-05	7	154602	rs375740683	2.668e-05	2.668e-05	1.77e-05	3.575e-05	0.0007	1.997e-05	1.754e-05	0.0002	0.0001	0	0	0	0	0	0.0007	2.158e-05	6.623e-05	8.115e-05	3.286e-05	3.284e-05	5.138e-05	1.346e-05	5.881e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.881e-05	0.0005	0	0.177	0.22224	T	0.125	0.35330	T	0.007	0.14184	B	0.007	0.12992	B	0.000024	0.55875	N	0.113488	0.999271	0.46519	D	0.435	0.12660	N	4.24	0.02590	T	-2.77	0.58733	D	0.166	0.17553	-0.8762	0.50059	T	0.003	0.00961	T	10	0.16625154	0.31051	T	0.006	0.15072	T	0.065	0.18881	.	.	0.451977122513	0.44822	0.16711482203155092	0.16631	0.161022513929	0.18171	0.692071557045	0.66004	T	0.458239	0.79629	T	-0.501371	0.00562	T	-0.639888	0.09677	T	0.189784124493599	0.19831	T	0.962504	0.85970	D	0.2373407	0.46596	0.20957264	0.45307	0.2373407	0.46596	0.20957264	0.45306	-4.728	0.33742	T	.	.	0.076	0.05979	B	.	.	2.192177	0.27955	17.64	0.99477642361498841	0.66687	0.90151	0.51104	D	AEFGBI	0.477277	0.52033	N	-0.341222458799971	0.27597	1.515335	-0.17823099981469	0.32339	1.838841	0.999997330685392	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.8	3.67	0.41236	1.318000	0.33249	1.849000	0.29243	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0914:0.0:0.9086	8.656	0.33224	602	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	.	.	.	.	.	.	.	.	0.05	952.43	34	chr1	156540761	.	T	C	952.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.112;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=-1.764;SOR=0.743	GT:AD:DP:GQ:PL	0/1:58,42:100:99:964,0,1466	9	0	1	0
chr1	156581456	156581456	G	A	exonic	TTC24	.	nonsynonymous SNV	TTC24:NM_001105669:exon2:c.G92A:p.R31Q	.	431	1063	27	1	0	29	0.0134571	.	.	.	4020733	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.066	.	.	0.00519169	0.0086	0.0028	0.01	0	0.0130	0.0157	0.0044	0.0024	0.0026196	405	154602	rs192869620	0.0078	0.0074	0.0078	0.0077	0.0348	0.0076	0.0076	0.0309	0.0293	0.0020	0.0085	0.0317	0	0.0091	0.0348	0.0077	0.0100	0.0019	0.0076	0.0076	0.0076	0.0075	0.0144	0.0072	0.0071	0.0129	0.0123	0.0019	0	0.0144	0.0349	0	0.0088	0.0408	0.0087	0.0123	0.0019	0.798	0.03134	T	1.0	0.01155	T	.	.	.	.	.	.	0.694981	0.10143	N	0.820698	1	0.08975	N	-1.295	0.00719	N	-1.06	0.76819	T	0.51	0.02898	N	0.031	0.00770	-1.0441	0.16089	T	0.048	0.20355	T	8	0.003119409	0.00052	T	.	.	.	0.066	0.19193	.	.	0.0846915920261	0.08053	0.046677210505106946	0.04610	0.108947013883	0.12287	0.207851052284	0.00723	T	2.54E-4	0.00056	T	-0.62291	0.00106	T	-0.657156	0.08460	T	0.00621195902304562	0.00069	T	0.359064	0.08235	T	0.026803896	0.01785	0.025499392	0.00596	0.026803896	0.01784	0.025499392	0.00596	-4.317	0.28414	T	.	.	0.059	0.00820	B	.;.	.;.	-0.712542	0.01291	0.069	0.33188039571582323	0.01964	0.00266	0.01451	N	AEFGBI	0.032074	0.03554	N	-1.19098200561426	0.05136	0.2334128	-1.26074243739387	0.04974	0.2359242	0.999930896805824	0.46732	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.23	-1.72	0.07671	-0.333000	0.07938	0.016000	0.13516	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3363:0.1592:0.3497:0.1549	1.432	0.02194	693	0.58582	.;.	.	.	.	.	.	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	0.030374	0.026596	0.040698	0.048387	0.083333	0.062500	0.026882	0.032609	0.05	1155.43	39	chr1	156581456	.	G	A	1155.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.96;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=0.638;SOR=0.746	GT:AD:DP:GQ:PL	0/1:34,42:76:99:1167,0,791	9	0	1	0
chr1	156624642	156624642	C	T	exonic	HAPLN2	.	nonsynonymous SNV	HAPLN2:NM_021817:exon6:c.C598T:p.L200F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00800657912396	.	.	9.977e-06	0	0	0	0	0	0	6.818e-05	6.5e-06	1	154602	rs776528716	2.398e-05	2.394e-05	1.908e-05	2.892e-05	0.0002	1.741e-05	1.541e-05	0.0002	0.0001	0	0	0	0	0	0	1.259e-05	1.659e-05	0.0002	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	0.094	0.31383	T	0.135	0.34124	T	0.889	0.48869	P	0.593	0.50536	P	0.209583	0.16398	N	0.592517	0.603789	0.32561	D	.	.	.	3.13	0.08014	T	-0.94	0.25118	N	0.394	0.43514	-1.0920	0.05207	T	0.018	0.07329	T	10	0.23278126	0.40281	T	0.008007	0.21239	T	0.069	0.20116	0.502	0.59460	0.370240404367	0.36630	0.5208849167594674	0.52011	1.80444484246	0.91712	0.650962233543	0.60121	T	0.097504	0.40039	T	-0.378315	0.03192	T	-0.5776	0.14760	T	0.952314853668213	0.63762	D	0.940406	0.77539	D	0.1644761	0.36658	0.18386339	0.41403	0.1644761	0.36657	0.18386339	0.41402	-8.883	0.66940	D	.	.	0.232	0.46551	B	.	.	4.103029	0.61189	24.3	0.99704661778408465	0.80867	0.78401	0.38674	D	AEFDBHCIJ	0.240609	0.36237	N	0.00239475873754683	0.41965	2.519661	-0.0796192300717251	0.36233	2.106074	0.999999999999959	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.19	4.19	0.48645	0.167000	0.16419	5.708000	0.49410	0.587000	0.30956	0.000000	0.06391	1.000000	0.68203	0.352000	0.25704	0.1874:0.8126:0.0:0.0	10.943	0.46495	719	0.55657	Link domain|Link domain|Link domain|Link 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	.	.	.	.	.	.	.	.	0.05	1438.43	42	chr1	156624642	.	C	T	1438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.04;DP=465;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.154;SOR=0.617	GT:AD:DP:GQ:PL	0/1:52,56:108:99:1450,0,1160	9	0	1	0
chr1	158667914	158667914	C	T	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon15:c.G1982A:p.R661H	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	277722	not_specified|SPTA1-related_disorder|Elliptocytosis_2|Pyropoikilocytosis,_hereditary|Hereditary_spherocytosis_type_3|not_provided	MedGen:CN169374|.|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.239	0.244912499966	0.0012	0.00139776	0.0016	0.0008	0.0017	0.0001	0.0002	0.0013	0.0033	0.0048	0.0016041	248	154602	rs201845149	0.0018	0.0018	0.0017	0.0019	0.0057	0.0018	0.0018	0.0053	0.0051	0.0008	0.0009	0.0023	0	1.872e-05	0.0024	0.0017	0.0019	0.0057	0.0016	0.0016	0.0012	0.0019	0.0066	0.0014	0.0013	0.0048	0.0042	0.0006	0.0219	0.0018	0.0020	0.0002	0	0	0.0019	0.0005	0.0066	0.015	0.52492	D	0.0	0.92824	D	0.381	0.34388	B	0.292	0.40739	B	0.005757	0.32538	N	0.000000	0.999957	0.52396	D	2.65	0.77586	M	0.47	0.56114	T	-4.17	0.75456	D	0.643	0.65501	-0.8007	0.55103	T	0.136	0.45087	T	10	0.013627291	0.00288	T	0.244912	0.88864	D	0.239	0.54358	.	.	0.774208327972	0.77213	0.25969210225389694	0.25883	0.233724262705	0.25910	0.346686273813	0.17433	T	0.544069	0.84441	D	-0.297188	0.08927	T	-0.197747	0.54859	T	0.0621641350942771	0.07505	T	0.676232	0.28483	T	0.19862653	0.41773	0.16974567	0.39032	0.21184751	0.43520	0.1790239	0.40609	-6.629	0.51274	T	0.7337995041507219	0.81557	0.146	0.32251	B	.;.	.;.	3.717497	0.53105	23.3	0.99911957871752299	0.98095	0.94279	0.60662	D	AEFBI	0.512283	0.54056	D	-0.022429841843719	0.40841	2.432441	-0.0515949214927823	0.37420	2.190834	0.563869069234512	0.21436	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.83	3.91	0.44383	4.494000	0.60068	3.289000	0.37290	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.755000	0.35964	0.1574:0.8426:0.0:0.0	13.451	0.60621	603	0.67726	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.05	1230.43	33	chr1	158667914	.	C	T	1230.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.12;DP=400;ExcessHet=0;FS=5.718;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=-0.992;SOR=0.309	GT:AD:DP:GQ:PL	0/1:36,51:87:99:1242,0,759	9	0	1	0
chr1	160164165	160164165	G	A	exonic	ATP1A4	.	nonsynonymous SNV	ATP1A4:NM_144699:exon7:c.G788A:p.R263Q	.	426	1079	17	0	0	17	0.00781609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368	.	0.0005	0.0245607	0.0140	0.0015	0.0321	0.1146	0.0060	0.0017	0.0132	0.0090	0.0127812	1976	154602	rs76528638	0.0054	0.0054	0.0053	0.0055	0.1101	0.0053	0.0053	0.1073	0.1062	0.0010	0.0259	0.0042	0.1101	0.0080	0.0010	0.0005	0.0081	0.0087	0.0069	0.0069	0.0060	0.0079	0.1053	0.0066	0.0064	0.0980	0.0951	0.0013	0	0.0145	0.0026	0.1053	0.0086	0.0136	0.0009	0.0095	0.0108	0.129	0.26852	T	0.177	0.29740	T	0.665	0.41045	P	0.107	0.31211	B	0.000209	0.47681	N	0.183165	0.944658	0.26685	N	1.585	0.39878	L	-2.67	0.90332	D	-1.88	0.43906	N	0.046	0.01825	-0.4276	0.71144	T	0.411	0.75957	T	10	0.004645914	0.00097	T	.	.	.	0.368	0.68757	.	.	.	.	0.5678108596890505	0.56709	0.204912502532	0.22910	0.205313280225	0.00628	T	0.372635	0.73678	T	-0.440146	0.01291	T	-0.318163	0.42777	T	0.0186585112707288	0.00580	T	0.766723	0.39447	T	0.085755065	0.19906	0.15748742	0.36822	0.085755065	0.19906	0.15748742	0.36822	-7.512	0.57695	D	.	.	0.074	0.05188	B	.	.	0.114156	0.05128	1.656	0.98227405609794838	0.39360	0.32408	0.24578	N	AEFBCI	0.167626	0.29432	N	-0.706905521141849	0.15828	0.8010989	-0.799665722639131	0.14504	0.7581383	0.999742411703936	0.42466	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.54	0.61	0.16757	-0.170000	0.09886	-4.345000	0.02205	-2.519000	0.00257	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3567:0.1557:0.4877:0.0	4.496	0.11248	579	0.69780	.	.	.	.	.	.	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	0.007049	0.000000	0.000000	0.005848	0.000000	0.000000	0.018293	0.018939	0.05	1945.43	33	chr1	160164165	.	G	A	1945.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.17;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=1.34;SOR=0.652	GT:AD:DP:GQ:PL	0/1:56,70:126:99:1957,0,1228	9	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	.	.	.	.	.	.	.	.	0.5	2552.8	148	chr1	161048864	.	C	G	2552.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-5.803;DP=2098;ExcessHet=15.1594;FS=227.99;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.96;SOR=12.441	GT:AD:DP:GQ:PL	0/1:187,75:272:99:614,0,3332	0	0	9	1
chr1	161998008	161998008	C	T	exonic	OLFML2B	.	nonsynonymous SNV	OLFML2B:NM_001297713:exon6:c.G1294A:p.A432T,OLFML2B:NM_001347700:exon6:c.G1297A:p.A433T,OLFML2B:NM_015441:exon6:c.G1291A:p.A431T	.	427	1094	0	1	0	2	0.000913242	.	.	.	2279659	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.174	0.00847766563686	.	0.000199681	2.472e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs544736438	3.899e-05	3.899e-05	2.859e-05	4.95e-05	0.0003	3.047e-05	2.783e-05	0.0002	0.0002	0	0	0	0	0	0	2.608e-05	4.967e-05	0.0003	1.969e-05	1.968e-05	1.285e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.32	0.13566	T	0.89	0.03161	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.3	0.32576	L	-2.13	0.86349	D	1.09	0.01246	N	0.055	0.04790	-1.0542	0.13251	T	0.194	0.54782	T	8	0.039618194	0.02466	T	0.008478	0.22432	T	0.174	0.44019	0.145	0.04843	0.596874347621	0.59366	0.27800380482665393	0.27713	0.112297943068	0.12674	0.301220417023	0.10583	T	0.001252	0.02381	T	-0.248296	0.14309	T	-0.412909	0.31889	T	0.0259968350651433	0.01405	T	0.393561	0.11519	T	0.04148338	0.06116	0.068651736	0.14364	0.04148338	0.06115	0.068651736	0.14364	-2.844	0.08595	T	.	.	0.066	0.02458	B	.;.	.;.	-0.141026	0.03405	0.616	0.29897056132319599	0.01608	0.02975	0.07821	N	AEFGBI	0.099199	0.19973	N	-1.10442856244102	0.06564	0.3025187	-1.09828009114263	0.07734	0.3773869	0.998166327169836	0.36515	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	4.65	1.7	0.23359	-0.583000	0.05900	-0.996000	0.06663	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.7196:0.0:0.2804	8.100	0.30011	894	0.26265	.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1898.43	42	chr1	161998008	.	C	T	1898.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.186;DP=512;ExcessHet=0;FS=2.836;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.743;SOR=0.908	GT:AD:DP:GQ:PL	0/1:81,74:155:99:1910,0,2112	9	0	1	0
chr1	162587629	162587629	A	G	exonic	UAP1	.	nonsynonymous SNV	UAP1:NM_001324114:exon6:c.A989G:p.N330S,UAP1:NM_001324116:exon6:c.A989G:p.N330S,UAP1:NM_001324117:exon6:c.A989G:p.N330S,UAP1:NM_003115:exon6:c.A989G:p.N330S,UAP1:NM_001324113:exon7:c.A989G:p.N330S,UAP1:NM_001324115:exon7:c.A989G:p.N330S	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.0317888265038	0.0024	0.000599042	0.0025	0.0009	0.0003	0	0.0033	0.0031	0.0033	0.0036	0.0022445	347	154602	rs34942806	0.0025	0.0025	0.0024	0.0026	0.0035	0.0025	0.0024	0.0032	0.0031	0.0004	0.0003	0.0052	0	0.0030	0.0033	0.0025	0.0038	0.0035	0.0021	0.0021	0.0021	0.0020	0.0030	0.0019	0.0018	0.0027	0.0025	0.0002	0	0.0012	0.0058	0.0002	0.0039	0.0034	0.0030	0.0014	0.0029	0.002	0.72154	D	0.019	0.59159	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.084401	1	0.81001	D	3.14	0.88230	M	2.11	0.19860	T	-4.95	0.81910	D	0.914	0.91621	-0.8782	0.49903	T	0.114	0.40467	T	9	0.069359064	0.09939	T	0.031789	0.53784	D	0.406	0.71869	.	.	0.477508674505	0.47379	0.7411167807684088	0.74057	0.313632677135	0.33653	0.558523952961	0.47059	T	0.34716	0.71532	T	-0.394467	0.02517	T	-0.340239	0.40318	T	0.0390075534732362	0.03511	T	0.986901	0.95512	D	0.9488033	0.96144	0.8698939	0.92858	0.9488033	0.96144	0.8698939	0.92859	-10.181	0.75289	D	.	.	0.150	0.40424	B	.;.;.;.	.;.;.;.	4.513597	0.70700	25.6	0.99895444142745082	0.96819	0.98309	0.81491	D	AEFBCI	0.945148	0.95310	D	0.851108488054354	0.89171	9.863185	0.80697438195747	0.90274	10.33335	0.999960104129659	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.23	5.23	0.72570	8.818000	0.91619	11.175000	0.88104	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.082	0.64454	810	0.42761	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.001359	0.000000	0.000000	0.008621	0.006098	0.007576	0.05	788.43	33	chr1	162587629	.	A	G	788.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=396;ExcessHet=0;FS=1.816;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.96;ReadPosRankSum=-1.035;SOR=0.922	GT:AD:DP:GQ:PL	0/1:55,33:88:99:800,0,1386	9	0	1	0
chr1	168580061	168580061	A	C	splicing	XCL1	NM_002995:exon2:c.62-2A>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.376e-06	1.368e-06	1.368e-06	1.383e-06	9.023e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.023e-07	1.667e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152664	0.69518	D	-0.0184845	0.69129	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.580835	0.95435	35	0.99082145753969886	0.52002	0.82031	0.41323	D	AEFDBI	.	.	.	0.890172963893029	0.91269	10.79929	0.682692973284481	0.81068	7.440445	0.00307224065957958	0.09909	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.729263	0.43749	4.36	4.36	0.51643	3.786000	0.55136	10.957000	0.84437	0.750000	0.87069	0.994000	0.38300	1.000000	0.68203	0.821000	0.38685	1.0:0.0:0.0:0.0	10.148	0.41951	951	0.11083	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	670.43	34	chr1	168580061	.	A	C	670.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.796;DP=461;ExcessHet=0;FS=0.873;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.92;MQRankSum=0;QD=8.38;ReadPosRankSum=-0.319;SOR=0.569	GT:AD:DP:GQ:PL	0/1:48,32:80:99:682,0,1210	9	0	1	0
chr1	169983295	169983295	T	C	exonic	KIFAP3	.	nonsynonymous SNV	KIFAP3:NM_001204516:exon12:c.A1349G:p.D450G,KIFAP3:NM_001204517:exon13:c.A1361G:p.D454G,KIFAP3:NM_001375830:exon13:c.A1481G:p.D494G,KIFAP3:NM_001375831:exon13:c.A1481G:p.D494G,KIFAP3:NM_014970:exon13:c.A1481G:p.D494G,KIFAP3:NM_001204514:exon14:c.A1247G:p.D416G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.0146530455775	.	.	1.737e-05	0	0	0.0001	0	1.588e-05	0	0	1.29e-05	2	154602	rs774173222	1.375e-06	2.736e-06	1.368e-06	1.382e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.328e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.33923	T	0.145	0.34837	T	0.026	0.19406	B	0.022	0.19653	B	0.000000	0.84330	D	0.089331	1	0.81001	D	1.415	0.35607	L	0.7	0.51474	T	-4.01	0.76576	D	0.703	0.71765	-1.0793	0.07485	T	0.055	0.23300	T	9	0.41763115	0.56649	T	0.014653	0.34905	T	0.215	0.50805	0.587	0.71497	0.476676017676	0.47298	0.5318496622777737	0.53109	0.444870368862	0.44381	0.738318383694	0.72725	T	0.353728	0.72098	T	-0.152949	0.27851	T	-0.28502	0.46288	T	0.872366309165955	0.52224	D	0.941406	0.78138	D	0.58824754	0.72056	0.45085886	0.68045	0.58824754	0.72057	0.45085886	0.68046	-9.974	0.79855	D	.	.	0.300	0.54675	B	.;.;.;.	.;.;.;.	3.659624	0.51986	23.2	0.99099632362031609	0.52421	0.98488	0.83308	D	AEFGBI	0.890199	0.82500	D	0.0136404569544633	0.42475	2.559922	0.199383161820487	0.49814	3.180171	0.999863428430652	0.44398	0.634777	0.41761	0	0.633656	0.55848	0	0.618467	0.43123	0	0.645665	0.59343	0	.	.	5.12	5.12	0.69459	7.496000	0.80367	6.119000	0.53761	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.883	0.70188	478	0.77585	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	956.43	37	chr1	169983295	.	T	C	956.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.777;DP=429;ExcessHet=0;FS=8.927;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-1.64;SOR=0.408	GT:AD:DP:GQ:PL	0/1:43,42:85:99:968,0,1094	9	0	1	0
chr1	170998254	170998254	G	A	exonic	MROH9	.	nonsynonymous SNV	MROH9:NM_001163629:exon15:c.G1576A:p.V526I,MROH9:NM_025063:exon15:c.G1576A:p.V526I	.	437	996	79	10	0	99	0.0473458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0069	0.0103834	0.0113	0.0052	0.0071	0.0003	0.0145	0.0092	0.01	0.0312	0.0104268	1612	154602	rs151291051	0.0082	0.0082	0.0075	0.0089	0.0304	0.0081	0.0080	0.0294	0.0290	0.0051	0.0074	0.0143	2.521e-05	0.0129	0.0250	0.0063	0.0101	0.0304	0.0081	0.0082	0.0075	0.0089	0.0313	0.0078	0.0076	0.0273	0.0257	0.0042	0.0077	0.0098	0.0156	0.0006	0.0154	0.0374	0.0074	0.0104	0.0313	0.735	0.03753	T	0.813	0.05165	T	0.226	0.30455	B	0.02	0.19048	B	0.812073	0.09243	N	0.906517	0.999997	0.08975	N	0.09	0.08384	N	-0.2	0.66113	T	-0.26	0.11185	N	0.105	0.08925	-1.0196	0.23845	T	0.031	0.13286	T	10	0.0030203462	0.00049	T	.	.	.	0.057	0.16321	.	.	.	.	0.19145774194199625	0.19063	0.0480783259734	0.05242	0.432100772858	0.29495	T	0.006903	0.06325	T	-0.513668	0.00478	T	-0.487627	0.23639	T	0.0017889166806405	0.00018	T	0.475952	0.14261	T	0.024690988	0.01327	0.026309256	0.00713	0.024690988	0.01327	0.026309256	0.00713	-3.166	0.12070	T	.	.	0.092	0.13644	B	.;.	.;.	0.588054	0.09566	6.340	0.53438278281536755	0.04940	0.00054	0.00410	N	AEFBI	0.014009	0.00207	N	-1.1659067628566	0.05523	0.2520136	-1.09123380210306	0.07872	0.38468	1.92528234130716E-4	0.05898	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.03	3.9	0.44240	1.463000	0.34887	2.664000	0.33900	-1.060000	0.01619	0.008000	0.17931	0.186000	0.23459	0.000000	0.00833	0.8949:0.0:0.1051:0.0	7.275	0.25451	837	0.37933	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024169	0.035354	0.014946	0.008772	0.150000	0.017241	0.024390	0.030303	0.1	2467.14	35	chr1	170998254	.	G	A	2467.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.23;DP=504;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=1.09;SOR=0.668	GT:AD:DP:GQ:PL	0/1:57,50:107:99:1226,0,1403	8	0	2	0
chr1	180014239	180014239	G	C	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon10:c.G1786C:p.V596L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565	0.138735317183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.131	0.34596	T	0.997	0.70673	D	0.933	0.66815	D	0.000494	0.43931	D	0.000000	1	0.81001	D	2.515	0.73286	M	-2.57	0.89692	D	-1.93	0.44852	N	0.804	0.79986	0.672	0.92822	D	0.818	0.93855	D	9	0.7784072	0.77650	D	0.138735	0.82122	D	0.565	0.82232	0.251	0.18912	0.933423527662	0.93273	0.2305698346646848	0.22971	0.406491481352	0.41524	0.817128300667	0.84587	D	0.124088	0.44888	T	0.411747	0.90578	D	0.353669	0.90461	D	0.993486225605011	0.84301	D	0.907609	0.67324	D	0.52510554	0.68551	0.5940318	0.76435	0.52510554	0.68552	0.5940318	0.76436	-8.814	0.66492	D	.	.	0.957	0.87648	P	.	.	4.238175	0.64232	24.7	0.99861407413495462	0.94002	0.99292	0.94053	D	AEFGBI	0.815095	0.73715	D	0.861085333927434	0.89729	10.09338	0.856523218067628	0.93392	12.01194	0.999999999986871	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	9.516000	0.97042	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.577	0.95445	185	0.92771	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	33.12	76	chr1	180014239	.	G	C	33.12	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-2.503;DP=692;ExcessHet=0.2348;FS=217.548;InbreedingCoeff=-0.192;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.2;ReadPosRankSum=0.492;SOR=9.558	GT:AD:DP:GQ:PL	0/1:59,25:91:31:31,0,960	6	0	2	2
chr1	183517785	183517785	C	G	exonic	SMG7	.	nonsynonymous SNV	SMG7:NM_001174061:exon3:c.C151G:p.L51V,SMG7:NM_001375584:exon4:c.C277G:p.L93V,SMG7:NM_001375585:exon4:c.C277G:p.L93V,SMG7:NM_173156:exon4:c.C277G:p.L93V,SMG7:NM_201568:exon4:c.C277G:p.L93V,SMG7:NM_201569:exon4:c.C277G:p.L93V,SMG7:NM_001331007:exon5:c.C364G:p.L122V,SMG7:NM_001350219:exon6:c.C364G:p.L122V,SMG7:NM_001350220:exon6:c.C364G:p.L122V,SMG7:NM_001350221:exon6:c.C364G:p.L122V	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0133058537852	.	.	.	.	.	.	.	.	.	.	.	.	.	rs531929654	4.789e-06	4.788e-06	6.806e-06	2.75e-06	2.236e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.46910	D	0.134	0.51737	T	0.995	0.73220	D	0.906	0.67262	P	0.000027	0.55875	D	0.073855	0.999993	0.58761	D	1.355	0.33814	L	2.26	0.17596	T	-1.31	0.32791	N	0.668	0.67650	-1.1466	0.01130	T	0.067	0.27674	T	10	0.38624603	0.54561	T	0.013306	0.32613	T	0.166	0.42578	0.448	0.50793	0.427607127396	0.42382	0.30252169950099006	0.30165	1.90504244173	0.92856	0.84842389822	0.89376	D	0.035275	0.23656	T	-0.0697234	0.41370	T	-0.255064	0.49316	T	0.730861627075149	0.42254	D	0.968903	0.88767	D	0.3464411	0.56788	0.31846565	0.57814	0.3464411	0.56788	0.31846565	0.57813	-7.704	0.62445	D	.	.	0.701	0.80855	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.315877	0.45584	22.2	0.99795971829125873	0.88106	0.96891	0.71503	D	AEFGBI	0.574051	0.57699	D	0.508050359258633	0.67563	5.098591	0.545340601495162	0.71074	5.599762	0.999999998485689	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	3.759000	0.54939	1.790000	0.28791	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9256:0.0:0.0744	13.539	0.61123	371	0.84287	Telomerase activating protein Est1;Telomerase activating protein Est1;.;Telomerase activating protein Est1;Telomerase activating protein Est1;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	786.43	44	chr1	183517785	.	C	G	786.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.061;DP=417;ExcessHet=0;FS=1.109;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=-1.577;SOR=0.892	GT:AD:DP:GQ:PL	0/1:18,31:49:99:798,0,396	9	0	1	0
chr1	184796035	184796035	T	C	exonic	NIBAN1	.	nonsynonymous SNV	NIBAN1:NM_052966:exon14:c.A1729G:p.S577G	.	433	1077	12	0	0	12	0.00554017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00639504073135	0.0006	0.00119808	0.0009	0.0001	8.737e-05	0.0001	0	0.0007	0	0.0038	0.0007956	123	154602	rs147077078	0.0007	0.0007	0.0006	0.0008	0.0044	0.0007	0.0007	0.0032	0.0031	0.0001	0.0002	0.0011	2.527e-05	0	0.0044	0.0006	0.0006	0.0035	0.0006	0.0006	0.0005	0.0007	0.0048	0.0005	0.0004	0.0033	0.0028	0.0001	0	0.0008	0.0009	0	0	0	0.0006	0.0009	0.0048	0.068	0.35726	T	0.405	0.14771	T	0.976	0.58310	D	0.722	0.54942	P	0.002063	0.37317	N	0.341183	0.965931	0.25916	N	2.455	0.71248	M	2.81	0.10975	T	-1.57	0.37955	N	0.115	0.10340	-1.0710	0.09194	T	0.034	0.14683	T	10	0.008102179	0.00184	T	0.006395	0.16812	T	0.038	0.09825	.	.	0.510346895759	0.50673	0.14786637238149633	0.14708	0.293368524652	0.31762	0.368733018637	0.20650	T	0.186228	0.53945	T	-0.516746	0.00459	T	-0.515884	0.20713	T	0.104098024210432	0.12802	T	0.813219	0.46599	T	0.10479992	0.24775	0.100401625	0.24005	0.10479992	0.24775	0.100401625	0.24004	-5.582	0.42628	T	.	.	0.128	0.27161	B	.	.	3.535201	0.49623	22.8	0.99735428138570292	0.83119	0.73901	0.36147	D	AEFBI	0.265207	0.38238	N	0.392479718248568	0.61014	4.297012	0.433526379079357	0.63668	4.604964	0.81400020173335	0.24406	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.567892	0.33627	0	.	.	5.81	4.65	0.57626	3.588000	0.53712	3.540000	0.38999	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.301:0.0:0.0:0.699	8.241	0.30820	628	0.65206	.	.	.	.	.	.	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	0.000000	0.005435	0.000000	0.000000	0.017241	0.000000	0.007576	0.05	974.43	38	chr1	184796035	.	T	C	974.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.12;DP=424;ExcessHet=0;FS=2.829;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.029;SOR=1.04	GT:AD:DP:GQ:PL	0/1:47,41:88:99:986,0,1140	9	0	1	0
chr1	186367896	186367896	T	A	exonic	TPR	.	nonsynonymous SNV	TPR:NM_003292:exon4:c.A417T:p.E139D	.	441	1077	4	0	0	4	0.00185357	.	.	.	3886676	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.113	.	0.0024	0.00359425	0.0039	0.0004	0.0019	0	0.0009	0.0030	0.0070	0.0138	0.0035769	553	154602	rs149367812	0.0034	0.0034	0.0031	0.0037	0.0140	0.0033	0.0033	0.0133	0.0130	0.0004	0.0010	7.674e-05	2.529e-05	0.0021	0.0017	0.0030	0.0040	0.0140	0.0021	0.0021	0.0019	0.0023	0.0139	0.0019	0.0019	0.0112	0.0102	0.0006	0	0.0013	0	0	0.0014	0.0034	0.0028	0.0019	0.0139	0.015	0.52492	D	0.029	0.54541	D	0.997	0.70673	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	0.99723	0.43729	D	1.465	0.36909	L	1.88	0.23884	T	-1.14	0.29323	N	0.475	0.57006	-1.0967	0.04514	T	0.063	0.26244	T	10	0.009788424	0.00220	T	.	.	.	0.113	0.31778	0.344	0.33788	0.459313791991	0.45557	0.0731993553062674	0.07256	0.380827521035	0.39444	0.567534983158	0.48329	T	0.010538	0.09506	T	-0.444818	0.01211	T	-0.40005	0.33380	T	0.0165651994032799	0.00418	T	0.859714	0.56927	D	0.7107906	0.78651	0.435962	0.67065	0.7107906	0.78652	0.435962	0.67065	-3.658	0.18700	T	.	.	0.124	0.26169	B	.;.	.;.	2.773428	0.36409	20.2	0.99813026272342509	0.89708	0.89775	0.50460	D	AEFGBI	0.218360	0.34338	N	0.0343818089446439	0.43426	2.635678	0.0925096527557736	0.44171	2.704067	0.982501057312836	0.30408	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	6.08	3.79	0.42757	0.365000	0.20076	0.292000	0.16883	0.609000	0.47794	0.999000	0.42656	0.997000	0.33255	0.998000	0.85391	0.0:0.2845:0.0:0.7155	8.529	0.32485	307	0.87649	.;.	.	.	.	.	.	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	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.015152	0.05	1052.43	34	chr1	186367896	.	T	A	1052.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.894;DP=407;ExcessHet=0;FS=1.606;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-0.496;SOR=0.507	GT:AD:DP:GQ:PL	0/1:54,48:102:99:1064,0,1318	9	0	1	0
chr1	200618627	200618627	T	G	exonic	KIF14	.	nonsynonymous SNV	KIF14:NM_014875:exon2:c.A97C:p.S33R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.0598023036567	.	.	8.245e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs760296546	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.022	0.57587	D	0.097	0.25541	B	0.073	0.28123	B	0.025736	0.26038	N	0.400337	1	0.08975	N	0.895	0.22405	L	-1.14	0.77843	T	-1.74	0.41239	N	0.417	0.45709	-0.7999	0.55150	T	0.264	0.63480	T	10	0.12133214	0.22998	T	0.059802	0.67788	D	0.215	0.50805	0.171	0.07655	0.73809756493	0.73575	0.43741560593667095	0.43658	0.164389095634	0.18549	0.244681715965	0.03228	T	0.043483	0.26515	T	-0.0606222	0.42811	T	-0.324856	0.42040	T	0.113708361654837	0.13804	T	0.549745	0.18930	T	0.09307481	0.21852	0.12244108	0.29536	0.09307481	0.21852	0.12244108	0.29535	-3.436	0.15545	T	.	.	0.149	0.35098	B	.;.	.;.	0.138930	0.05329	1.820	0.98157541347531352	0.38747	0.25676	0.22770	N	AEFBI	0.096724	0.19521	N	-0.951395020836266	0.09662	0.4582316	-1.02186807934121	0.09305	0.4621718	0.999491728269762	0.40007	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.18	-1.39	0.08526	0.257000	0.18137	-1.321000	0.05722	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.069000	0.16583	0.0:0.409:0.0:0.591	11.026	0.46963	608	0.67185	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1373.43	33	chr1	200618627	.	T	G	1373.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.448;DP=431;ExcessHet=0;FS=5.472;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-1.873;SOR=0.38	GT:AD:DP:GQ:PL	0/1:69,57:126:99:1385,0,1823	9	0	1	0
chr1	203049733	203049733	C	T	exonic	PPFIA4	.	stopgain	PPFIA4:NM_001304331:exon13:c.C1477T:p.R493X,PPFIA4:NM_001304332:exon13:c.C1477T:p.R493X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.169e-05	0	0	0.0002	0	0	0	0.0001	1.29e-05	2	154602	rs767596639	7.667e-06	9.577e-06	5.543e-06	9.817e-06	2.439e-05	4.11e-06	3.01e-06	4.05e-06	2.79e-06	0	0	0	0	0	0	8.198e-06	0	2.439e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.067956	0.21706	U	0.221425	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.418	0.45803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0999489	0.64288	D	-0.0942068	0.63843	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Dominant;.	High;.	9.347047	0.98806	40	0.99771366348730284	0.85918	0.91220	0.53096	D	AEFDBI	0.215136	0.34052	N	0.0825186690553071	0.45650	2.817864	0.166245378547797	0.48010	3.022786	0.999987995918358	0.51787	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.67	4.67	0.58089	1.090000	0.30514	4.785000	0.44861	0.594000	0.32500	0.942000	0.32722	1.000000	0.68203	0.995000	0.73285	0.2076:0.7924:0.0:0.0	12.656	0.56149	804	0.43891	.;.	.	.	.	.	.	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	2679.14	33	chr1	203049733	.	C	T	2679.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.1;DP=472;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-0.268;SOR=0.671	GT:AD:DP:GQ:PL	0/1:29,55:84:99:1491,0,584	8	0	2	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	.	.	.	.	.	.	.	.	0.35	1775.95	150	chr1	204444146	.	C	T	1775.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-4.45;DP=1261;ExcessHet=7.0302;FS=231.663;InbreedingCoeff=-0.5226;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.73;ReadPosRankSum=1.11;SOR=9.6	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:105,49:154:99:.:.:457,0,2028:.	3	0	7	0
chr1	205915010	205915010	C	T	exonic	SLC26A9	.	nonsynonymous SNV	SLC26A9:NM_134325:exon22:c.G2546A:p.R849Q	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	.	0.0039	0.00758786	0.0076	0.0012	0.0028	0.0122	0.0011	0.0057	0.0066	0.0228	0.0072315	1118	154602	rs140760240	0.0060	0.0060	0.0053	0.0066	0.0283	0.0058	0.0058	0.0247	0.0234	0.0013	0.0038	0.0086	0.0104	0.0009	0.0283	0.0047	0.0069	0.0228	0.0046	0.0046	0.0046	0.0047	0.0155	0.0044	0.0042	0.0127	0.0117	0.0013	0	0.0041	0.0087	0.0133	0.0004	0.0102	0.0059	0.0047	0.0155	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	0.000003	0.00162	N	14.346700	1	0.08975	N	.	.	.	-3.25	0.93532	D	0.0	0.07008	N	0.071	0.04426	-0.3220	0.74366	T	0.403	0.75338	T	10	0.0027073324	0.00042	T	.	.	.	0.300	0.62068	.	.	0.194818534648	0.19098	0.01893306541877592	0.01847	0.157990632338	0.17844	0.204608500004	0.00603	T	.	.	.	-0.420421	0.01699	T	-0.359096	0.38158	T	0.0319549881320626	0.02299	T	0.394461	0.09873	T	.	.	.	.	.	.	.	.	-2.854	0.08691	T	.	.	0.086	0.10931	B	.;.	.;.	0.554397	0.09227	6.012	0.63638908723729615	0.07277	0.03938	0.09333	N	AEFGBI	0.081607	0.16514	N	-1.3979216659568	0.02658	0.1176788	-1.38142597711257	0.03449	0.1609509	0.992175131580337	0.32745	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.59	2.76	0.31527	0.003000	0.12984	0.330000	0.17274	-1.718000	0.00733	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.9104:0.0:0.0896	12.608	0.55889	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.020380	0.023392	0.000000	0.034483	0.018293	0.011364	0.05	2734.43	39	chr1	205915010	.	C	T	2734.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=638;ExcessHet=0;FS=3.698;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.343;SOR=0.503	GT:AD:DP:GQ:PL	0/1:118,109:227:99:2746,0,2792	9	0	1	0
chr1	207124277	207124277	G	A	exonic	C4BPA	.	nonsynonymous SNV	C4BPA:NM_000715:exon6:c.G617A:p.R206H	.	.	.	.	.	.	.	.	.	.	.	2229325	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.151	0.0164804993988	0.0005	0.000399361	0.0004	0.0005	0.0002	0.0001	0	0.0005	0	0.0003	0.0003493	54	154602	rs140603272	0.0005	0.0005	0.0005	0.0005	0.0007	0.0005	0.0005	0.0006	0.0006	8.964e-05	0.0003	0	5.039e-05	7.492e-05	0	0.0007	0.0005	0.0002	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	0.0002	0	0.0004	0	0	0	0	0.0005	0	0.0002	0.643	0.04957	T	0.217	0.26145	T	0.0	0.02946	B	0.001	0.04355	B	0.009232	0.01233	N	2.411950	1	0.08975	N	-0.385	0.03041	N	-0.09	0.64086	T	1.7	0.00577	N	0.098	0.07949	-0.9785	0.35345	T	0.083	0.32470	T	10	0.03074786	0.01203	T	0.01648	0.37757	T	0.151	0.39764	.	.	0.0482279557977	0.04254	0.4641901875705783	0.46338	0.312007655929	0.33502	0.195779830217	0.00344	T	0.026801	0.19761	T	-0.482443	0.00716	T	-0.592381	0.13459	T	0.00986038477615006	0.00130	T	0.144386	0.01177	T	0.013631302	0.00065	0.018942848	0.00071	0.013631302	0.00065	0.018942848	0.00071	-1.826	0.02588	T	.	.	0.083	0.09191	B	.	.	-0.350715	0.02404	0.268	0.87143972903899247	0.17019	0.00635	0.02785	N	AEFBI	0.486070	0.52540	N	-1.97853598734102	0.00235	0.01008187	-2.0532773943336	0.00235	0.01037053	0.999999633027575	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.71	-11.4	0.00070	-0.446000	0.06910	-5.919000	0.01553	-1.593000	0.00903	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3083:0.1075:0.4986:0.0857	6.930	0.23613	614	0.66605	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP 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	.	.	.	.	.	.	.	.	0.05	1500.43	41	chr1	207124277	.	G	A	1500.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.055;DP=621;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.048;SOR=0.6	GT:AD:DP:GQ:PL	0/1:62,65:127:99:1512,0,1394	9	0	1	0
chr1	212100360	212100360	A	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.A557G:p.D186G,DTL:NM_001286230:exon13:c.A1244G:p.D415G,DTL:NM_016448:exon14:c.A1370G:p.D457G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0705558454721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.851e-05	0.0028	0.0001	7.4e-05	0.0004	7.568e-05	7.088e-05	8.625e-05	8.04e-05	0.0002	0	7.808e-05	0	0	0.0004	0.0001	8.675e-05	2.365e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.106	0.39340	T	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.058592	0.999257	0.46462	D	2.25	0.63811	M	-0.7	0.72785	T	-1.67	0.40468	N	0.749	0.74826	-0.3539	0.73441	T	0.438	0.77695	T	10	0.75805414	0.76133	D	0.070556	0.71033	D	0.526	0.79947	0.319	0.29741	0.808314291208	0.80651	0.3264893862643791	0.32561	0.86120817891	0.68970	0.44428807497	0.31164	T	0.329649	0.69993	T	0.19523	0.73447	D	0.0426576	0.73102	D	0.955969452857971	0.64639	D	0.89741	0.64114	D	0.3560679	0.57536	0.23249285	0.48411	0.3560679	0.57536	0.23249285	0.48410	-2.972	0.09882	T	.	.	0.269	0.50334	B	.;.	.;.	4.309799	0.65871	24.9	0.99831915659102677	0.91370	0.96274	0.68342	D	AEFGBI	0.726655	0.67525	D	0.474501222025507	0.65606	4.843659	0.455932996682415	0.65097	4.781064	0.999162801006358	0.38622	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	4.24	0.49486	5.910000	0.69668	9.238000	0.79403	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8598:0.1402:0.0:0.0	12.458	0.55050	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	169.58	83	chr1	212100360	.	A	G	169.58	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.766;DP=989;ExcessHet=1.5895;FS=79.61;InbreedingCoeff=-0.2414;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=1.6;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,15:131:51:0|1:212100360_A_G:51,0,4459:212100360	6	0	4	0
chr1	212100361	212100361	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C558G:p.D186E,DTL:NM_001286230:exon13:c.C1245G:p.D415E,DTL:NM_016448:exon14:c.C1371G:p.D457E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0329555447533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.37e-05	0.0014	5.667e-05	3.064e-05	5.487e-05	3.491e-05	3.173e-05	4.337e-05	3.902e-05	3.026e-05	0	3.843e-05	0	0	0	5.487e-05	1.673e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.171	0.31936	T	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.058592	0.989147	0.40895	D	2.25	0.63811	M	-0.6	0.71662	T	-0.8	0.22294	N	0.349	0.39052	-0.3807	0.72629	T	0.393	0.74685	T	10	0.3230481	0.49647	T	0.032956	0.54641	D	0.311	0.63269	0.299	0.26522	0.740948349148	0.73862	0.17433452095652613	0.17352	0.336806597811	0.35678	0.457547277212	0.32974	T	0.149432	0.48844	T	0.025508	0.55121	T	-0.201136	0.54540	T	0.753782212734222	0.43497	D	0.759324	0.38363	T	0.3453272	0.56701	0.20157085	0.44143	0.3453272	0.56701	0.20157085	0.44142	-3.559	0.17267	T	.	.	0.298	0.52841	B	.;.	.;.	3.620151	0.51223	23.1	0.99649687588057234	0.77192	0.89840	0.50569	D	AEFGBI	0.335728	0.43407	N	0.202993589347586	0.51343	3.316385	0.188628048828177	0.49223	3.128123	0.997589750058845	0.35786	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	3.55	0.39770	1.268000	0.32665	1.684000	0.28029	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8588:0.0:0.1412	11.901	0.51966	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	174.52	80	chr1	212100361	.	C	G	174.52	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-3.522;DP=993;ExcessHet=1.5895;FS=79.61;InbreedingCoeff=-0.3237;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=1.6;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,15:131:51:0|1:212100360_A_G:51,0,4459:212100360	4	0	4	2
chr1	212100362	212100362	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C559G:p.L187V,DTL:NM_001286230:exon13:c.C1246G:p.L416V,DTL:NM_016448:exon14:c.C1372G:p.L458V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0545165954567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.438	0.13595	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.25	0.63811	M	-0.81	0.73949	T	-0.71	0.20358	N	0.513	0.54409	-0.1746	0.78316	T	0.536	0.82849	D	10	0.37823913	0.53996	T	0.054517	0.65885	D	0.250	0.55888	0.198	0.11110	0.766922051636	0.76479	0.22416353566131936	0.22331	1.04972523653	0.76107	0.472474902868	0.35021	T	0.11718	0.43707	T	0.00178878	0.51901	T	-0.235207	0.51265	T	0.933079659938812	0.59956	D	0.891311	0.62583	D	0.38030902	0.59339	0.26082087	0.51851	0.38030902	0.59339	0.26082087	0.51850	-4.02	0.24102	T	.	.	0.169	0.37235	B	.;.	.;.	4.139380	0.62006	24.4	0.99826959884761401	0.90939	0.96985	0.72028	D	AEFGBI	0.698434	0.65611	D	0.646827706149991	0.76162	6.436104	0.648942237263915	0.78531	6.895201	0.9999999853233	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	5.41	0.78313	5.006000	0.63731	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.553	0.95324	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	169.62	83	chr1	212100362	.	C	G	169.62	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.832;DP=867;ExcessHet=1.5895;FS=79.61;InbreedingCoeff=-0.2424;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=1.66;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,15:131:51:0|1:212100360_A_G:51,0,4459:212100360	6	0	4	0
chr1	215671031	215671031	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon64:c.G14074A:p.G4692R	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	0	1493	28	1	0	30	0.00994695	.	.	YES	57589	Usher_syndrome_type_2A|Retinitis_pigmentosa_39|not_specified|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.433	0.56446389033	0.0048	0.00219649	0.0048	0.0014	0.0022	0	0.0023	0.0072	0.0011	0.0027	0.0050517	781	154602	rs45549044	0.0067	0.0067	0.0068	0.0066	0.0080	0.0066	0.0066	0.0078	0.0078	0.0012	0.0022	0.0004	5.038e-05	0.0027	0.0052	0.0080	0.0059	0.0032	0.0042	0.0042	0.0045	0.0039	0.0075	0.0039	0.0038	0.0069	0.0067	0.0015	0.0055	0.0014	0	0	0.0016	0.0102	0.0075	0.0043	0.0035	0.041	0.41915	D	0.006	0.70582	D	1.0	0.90584	D	0.987	0.77487	D	0.000996	0.40743	U	0.000000	0.972881	0.38981	D	1.63	0.41750	L	0.46	0.56281	T	-3.9	0.72932	D	0.751	0.75009	-0.7756	0.56548	T	0.190	0.54213	T	10	0.01668179	0.00353	T	0.564464	0.96037	D	0.433	0.73879	0.764	0.89213	0.873267043112	0.87203	0.6539209591646689	0.65328	0.228862989454	0.25439	0.423841416836	0.28365	T	0.313544	0.68529	T	-0.106726	0.35311	T	0.0875454	0.76081	D	0.0187997115715382	0.00591	T	0.859714	0.55187	D	0.2388664	0.46770	0.30004802	0.56038	0.2388664	0.46770	0.30004802	0.56037	-10.165	0.74893	D	0.7067154624936425	0.78641	0.345	0.56218	A	.	.	3.947307	0.57808	23.9	0.99580028881389804	0.72921	0.82560	0.41771	D	AEFI	0.265091	0.38229	N	0.186135652831798	0.50535	3.242436	0.102961599110356	0.44699	2.746691	0.311064590805169	0.19287	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.09	4.17	0.48303	3.484000	0.52965	5.915000	0.51078	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.796000	0.37562	0.0:0.9246:0.0:0.0754	13.484	0.60812	656	0.62345	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	1	0	0	0	0	0	0	0.004532	0.000000	0.001359	0.005848	0.000000	0.008621	0.003049	0.007576	0.05	1645.43	35	chr1	215671031	.	C	T	1645.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.63;DP=443;ExcessHet=0;FS=5.341;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=0.113;SOR=1.125	GT:AD:DP:GQ:PL	0/1:69,62:131:99:1657,0,1611	9	0	1	0
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	191.32	95	chr1	220154029	.	G	C	191.32	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.127;DP=777;ExcessHet=7.0302;FS=236.426;InbreedingCoeff=-0.4786;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.41;ReadPosRankSum=-0.194;SOR=10.961	GT:AD:DP:GQ:PL	0/1:57,24:81:15:15,0,670	3	0	7	0
chr1	222628566	222628566	T	C	exonic	MIA3	.	nonsynonymous SNV	MIA3:NM_001324062:exon4:c.T1346C:p.I449T,MIA3:NM_001324063:exon4:c.T1346C:p.I449T,MIA3:NM_198551:exon4:c.T1346C:p.I449T,MIA3:NM_001324064:exon5:c.T854C:p.I285T	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0103124165017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.157	0.53426	T	0.041	0.21357	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	.	.	.	0.98	0.42122	T	-1.26	0.40660	N	0.111	0.09772	-1.0440	0.16118	T	0.051	0.21495	T	9	0.060618162	0.07474	T	0.010312	0.26698	T	0.022	0.04323	0.273	0.22369	0.239901079897	0.23603	0.012099657781530966	0.01168	0.0664129689356	0.07407	0.261374950409	0.05056	T	0.00257	0.01964	T	-0.242325	0.15053	T	-0.58586	0.14026	T	0.0411155529422168	0.03892	T	0.631737	0.25234	T	0.031044304	0.02873	0.045152333	0.06010	0.031044304	0.02873	0.045152333	0.06010	-3.516	0.16657	T	.	.	0.142	0.31100	B	.;.	.;.	0.091052	0.04949	1.517	0.57382408698712495	0.05757	0.16823	0.19565	N	AEFBCI	0.049341	0.08514	N	-1.23099974729342	0.04556	0.2058725	-1.30817126510142	0.04324	0.2036903	0.937240987772214	0.27289	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	4.84	-4.08	0.03696	0.070000	0.14440	-0.366000	0.09640	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.035000	0.13729	0.1354:0.3424:0.1523:0.3699	1.764	0.02817	909	0.22467	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1235.43	33	chr1	222628566	.	T	C	1235.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.982;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.975;SOR=0.695	GT:AD:DP:GQ:PL	0/1:47,49:96:99:1247,0,1323	9	0	1	0
chr1	228359746	228359746	G	C	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_052843:exon81:c.G18854C:p.G6285A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.026283531801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.074e-06	2.736e-06	1.373e-06	2.785e-06	0.0003	5.5e-07	1.5e-07	6.135e-05	2.537e-05	0	0	0	0	0	0.0003	0	1.672e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.433	0.09458	T	0.353	0.17320	T	0.002	0.09854	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	0.57	0.54347	T	0.53	0.02808	N	0.077	0.05162	-0.9985	0.30339	T	0.106	0.38783	T	9	0.09860602	0.17840	T	0.026284	0.49208	D	0.118	0.32913	0.146	0.04941	0.334659703779	0.33074	.	.	.	.	.	.	.	.	.	.	-0.292827	0.09354	T	-0.658402	0.08375	T	0.034996896982193	0.02807	T	0.352865	0.07937	T	.	.	.	.	.	.	.	.	-3.504	0.16487	T	.	.	.	.	.	.	.	0.941003	0.13168	9.668	0.21074663912941602	0.00787	0.43828	0.27184	N	AEFBCI	0.148834	0.27280	N	-0.799237922149287	0.13330	0.6559095	-0.756720476527392	0.15557	0.8187969	0.0163916783769564	0.12826	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.14	2.18	0.26813	3.199000	0.50745	3.038000	0.36069	-0.847000	0.02749	0.998000	0.41325	0.966000	0.29516	0.044000	0.14658	0.1647:0.153:0.6823:0.0	6.291	0.20267	430	0.80826	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	566.43	36	chr1	228359746	.	G	C	566.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.94;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.03;SOR=0.743	GT:AD:DP:GQ:PL	0/1:30,20:50:99:578,0,837	9	0	1	0
chr1	232404173	232404173	C	T	exonic	SIPA1L2	.	nonsynonymous SNV	SIPA1L2:NM_020808:exon20:c.G4768A:p.D1590N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.0653831593121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.15717	T	0.534	0.09965	T	0.997	0.70673	D	0.996	0.84481	D	0.000133	0.49741	D	0.144113	0.886827	0.81001	D	1.5	0.37844	L	-1.19	0.78427	T	-0.44	0.14588	N	0.544	0.57092	-0.2718	0.75763	T	0.477	0.79956	T	10	0.51560795	0.62348	D	0.065383	0.69562	D	0.342	0.66392	0.248	0.18447	0.615786021841	0.61267	0.21456721783763197	0.21372	0.260548508793	0.28619	0.601792216301	0.53157	T	0.010165	0.09205	T	-0.106076	0.35417	T	-0.390148	0.34534	T	0.880663692951202	0.53069	D	0.859914	0.55237	D	0.12303025	0.28897	0.11804504	0.28497	0.12303025	0.28897	0.11804504	0.28496	-4.651	0.32806	T	.	.	0.127	0.27039	B	.;.	.;.	4.253464	0.64587	24.7	0.99816989586432225	0.90061	0.94928	0.62818	D	AEFBI	0.686919	0.64843	D	0.539698786034862	0.69456	5.359639	0.58738873546575	0.74035	6.069069	0.999982909128397	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.5	5.5	0.81386	5.594000	0.67248	7.674000	0.64943	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.828	0.88584	964	0.07719	Signal-induced proliferation-associated 1-like protein, C-terminal;Signal-induced proliferation-associated 1-like protein, 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	.	.	.	.	.	.	.	.	0.05	797.43	35	chr1	232404173	.	C	T	797.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.277;DP=389;ExcessHet=0;FS=2.933;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.073;SOR=0.861	GT:AD:DP:GQ:PL	0/1:44,36:80:99:809,0,1046	9	0	1	0
chr1	232969912	232969912	G	A	exonic	NTPCR	.	nonsynonymous SNV	NTPCR:NM_032324:exon4:c.G298A:p.D100N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00781237384782	.	.	1.648e-05	0	8.637e-05	0	0	0	0	6.058e-05	3.84e-05	1	26028	rs754606170	1.026e-05	1.026e-05	8.17e-06	1.238e-05	2.323e-05	6.16e-06	4.89e-06	5.31e-06	3.88e-06	0	2.236e-05	0	0	0	0	9.895e-06	1.657e-05	2.323e-05	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0.0005	0	0.64	0.13219	T	0.477	0.14588	T	0.0	0.07471	B	0.001	0.06944	B	0.774852	0.06619	N	1.095660	1	0.08975	N	0.28	0.10031	N	1.0	0.41392	T	-0.32	0.17417	N	0.047	0.01911	-1.0113	0.26510	T	0.049	0.20868	T	10	0.039586753	0.02459	T	0.007812	0.20720	T	0.015	0.02232	0.314	0.28935	0.18995819373	0.18626	0.2855120344657044	0.28464	0.182692352002	0.20537	0.254825204611	0.04293	T	0.016443	0.13591	T	-0.49049	0.00646	T	-0.760804	0.03084	T	0.0164328701064573	0.00409	T	0.351965	0.07883	T	0.032546476	0.03302	0.02173473	0.00215	0.032546476	0.03302	0.02173473	0.00215	-3.849	0.21538	T	.	.	0.085	0.10691	B	.;.	.;.	0.733240	0.11023	7.682	0.62995921815827505	0.07107	0.23318	0.22037	N	AEFDGBI	0.132500	0.25182	N	-1.22538020833436	0.04635	0.2095752	-1.19802097080456	0.05943	0.2846271	0.991464316225364	0.32498	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.59	1.7	0.23359	0.524000	0.22648	0.938000	0.22831	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.376:0.1639:0.4601:0.0	4.267	0.10218	940	0.13648	AAA+ ATPase domain;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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	495.43	33	chr1	232969912	.	G	A	495.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=358;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=2.48;SOR=0.741	GT:AD:DP:GQ:PL	0/1:33,21:54:99:507,0,766	9	0	1	0
chr1	235182521	235182521	C	G	exonic	ARID4B	.	nonsynonymous SNV	ARID4B:NM_031371:exon19:c.G2140C:p.V714L,ARID4B:NM_001206794:exon20:c.G2398C:p.V800L,ARID4B:NM_016374:exon20:c.G2398C:p.V800L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00561153731555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.34982	T	0.318	0.19246	T	0.001	0.12996	B	0.002	0.12992	B	0.117677	0.19144	N	0.548555	0.998728	0.21957	N	0.345	0.11182	N	1.93	0.22881	T	-0.81	0.22294	N	0.176	0.18920	-0.9918	0.32141	T	0.026	0.11220	T	10	0.048383087	0.04281	T	0.005612	0.14500	T	0.025	0.05312	0.088	0.00943	0.296721761885	0.29290	0.12161690783374385	0.12088	0.23353593615	0.25884	0.379286706448	0.22156	T	0.267712	0.63976	T	-0.225816	0.17205	T	-0.562146	0.16175	T	0.0392487421631813	0.03555	T	0.855414	0.58729	D	0.048201256	0.08363	0.053770233	0.09122	0.048201256	0.08363	0.053770233	0.09121	-3.552	0.17168	T	.	.	0.108	0.23986	B	.;.;.	.;.;.	1.053720	0.14351	10.93	0.96261028687449401	0.29215	0.94135	0.60218	D	AEFGBI	0.211711	0.33747	N	-0.583538361842969	0.19444	1.017741	-0.411272505613005	0.24666	1.352024	0.252108979411645	0.18691	0.732398	0.92422	0	0.724815	0.89359	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.96	2.01	0.25568	0.824000	0.27034	-0.025000	0.12872	0.599000	0.40250	0.796000	0.29669	0.744000	0.26502	0.995000	0.73285	0.1246:0.6057:0.0:0.2698	5.635	0.16809	963	0.08280	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	48.43	36	chr1	235182521	.	C	G	48.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.117;DP=491;ExcessHet=0;FS=129.719;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.86;SOR=7.222	GT:AD:DP:GQ:PL	0/1:66,12:87:60:60,0,1373	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	193.54	80	chr1	240207647	.	G	GCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	193.54	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.345;DP=586;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=59.51;MQRankSum=0;QD=2.13;ReadPosRankSum=0.538;SOR=0.76	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,10:13:77:0|1:240207647_G_GCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:205,0,77:240207647	9	0	1	0
chr1	240207788	240207788	-	CCCGGAGCAGGAATACCTCCTCCACCCCCTCTA	exonic	FMN2	.	nonframeshift insertion	FMN2:NM_020066:exon5:c.2976_2977insCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA:p.G1104_V1105insAGIPPPPPLPG,FMN2:NM_001305424:exon6:c.2988_2989insCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA:p.G1108_V1109insAGIPPPPPLPG	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	4008224	Intellectual_disability,_autosomal_recessive_47	MONDO:MONDO:0014524,MedGen:C4015444,OMIM:616193,Orphanet:88616	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	3.297e-05	0	0	0	0	5.93e-05	0	0	3.84e-05	1	26028	rs746761716	0.0040	0.0069	0.0039	0.0042	0.0132	0.0039	0.0039	0.0119	0.0113	0.0055	0.0029	0.0121	0.0132	0.0047	0.0110	0.0032	0.0061	0.0071	2.121e-05	0.0005	0	4.471e-05	4.004e-05	0	0	.	.	0	0	0	0	0	0	0	4.004e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	2184.54	36	chr1	240207788	.	T	TCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA	2184.54	.	AC=2;AF=0.111;AN=18;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=0.8566;MLEAC=2;MLEAF=0.111;MQ=58.2;QD=16.06;SOR=1.569	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,119:119:99:1|1:240207775_C_T:2487,224,0:240207775	8	1	0	1
chr2	1922412	1922412	C	T	exonic	MYT1L	.	nonsynonymous SNV	MYT1L:NM_001303052:exon10:c.G1357A:p.A453T,MYT1L:NM_001329845:exon10:c.G1357A:p.A453T,MYT1L:NM_001329846:exon10:c.G1357A:p.A453T,MYT1L:NM_001329847:exon10:c.G1357A:p.A453T,MYT1L:NM_001329848:exon10:c.G1357A:p.A453T,MYT1L:NM_001329849:exon10:c.G1357A:p.A453T,MYT1L:NM_001329851:exon10:c.G1357A:p.A453T,MYT1L:NM_001329852:exon10:c.G1357A:p.A453T,MYT1L:NM_015025:exon10:c.G1357A:p.A453T,MYT1L:NM_001329844:exon11:c.G1357A:p.A453T	Mental retardation, autosomal dominant 39, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.00921942470499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.326	0.18789	T	0.728	0.45767	P	0.196	0.39801	B	0.000001	0.62929	D	0.096900	1	0.81001	D	2.425	0.70256	M	0.88	0.46028	T	-1.22	0.30964	N	0.264	0.29889	-1.0381	0.17893	T	0.096	0.36107	T	10	0.22837803	0.39741	T	0.009219	0.24225	T	0.117	0.32689	0.225	0.14960	0.151262610727	0.14761	0.4180459298702358	0.41720	0.585980788598	0.54220	0.609521508217	0.54247	T	0.039831	0.25325	T	-0.000435483	0.51595	T	-0.238402	0.50954	T	0.908967733383179	0.56371	D	0.868613	0.59716	D	0.18988818	0.40550	0.21257585	0.45732	0.18988818	0.40550	0.21257585	0.45731	-8.423	0.64350	D	0.18552011100585164	0.24109	0.141	0.41572	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.161441	0.42834	21.6	0.99845906577283383	0.92576	0.86239	0.45481	D	AEFDBI	0.433809	0.49512	N	0.257848015457298	0.54028	3.569501	0.365147135382715	0.59426	4.120215	0.999958096797616	0.48110	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	3.243000	0.51090	6.002000	0.52504	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.604000	0.31488	0.0:1.0:0.0:0.0	20.294	0.98546	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	.	.	.	.	.	.	.	.	0.05	358.43	35	chr2	1922412	.	C	T	358.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.263;DP=500;ExcessHet=0;FS=73.905;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.28;ReadPosRankSum=1.32;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,23:157:99:0|1:1922412_C_T:370,0,5161:1922412	9	0	1	0
chr2	1922414	1922414	A	G	exonic	MYT1L	.	nonsynonymous SNV	MYT1L:NM_001303052:exon10:c.T1355C:p.M452T,MYT1L:NM_001329845:exon10:c.T1355C:p.M452T,MYT1L:NM_001329846:exon10:c.T1355C:p.M452T,MYT1L:NM_001329847:exon10:c.T1355C:p.M452T,MYT1L:NM_001329848:exon10:c.T1355C:p.M452T,MYT1L:NM_001329849:exon10:c.T1355C:p.M452T,MYT1L:NM_001329851:exon10:c.T1355C:p.M452T,MYT1L:NM_001329852:exon10:c.T1355C:p.M452T,MYT1L:NM_015025:exon10:c.T1355C:p.M452T,MYT1L:NM_001329844:exon11:c.T1355C:p.M452T	Mental retardation, autosomal dominant 39, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.00956079778111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.3e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.21801	T	0.375	0.16376	T	0.915	0.53761	P	0.395	0.47529	B	0.000000	0.84330	D	0.074015	0.999998	0.58761	D	2.51	0.73131	M	0.93	0.44065	T	-1.13	0.29525	N	0.849	0.84505	-1.0716	0.09065	T	0.102	0.37669	T	10	0.47374427	0.60019	T	0.009561	0.25016	T	0.204	0.49076	0.384	0.40298	0.151262610727	0.14761	0.41840029990008015	0.41756	1.30224662513	0.83047	0.765963673592	0.76819	T	0.109006	0.42251	T	0.201767	0.74057	D	0.0520481	0.73719	D	0.89718109369278	0.54905	D	0.939006	0.77539	D	0.31228548	0.53983	0.2715907	0.53062	0.31228548	0.53983	0.2715907	0.53061	-12.095	0.85579	D	0.2617136407024451	0.35328	0.638	0.81580	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.110608	0.41958	21.4	0.95968949730145436	0.28323	0.96037	0.67248	D	AEFDBI	0.904455	0.85478	D	0.339383814597307	0.58182	3.988971	0.429364475211406	0.63401	4.573211	0.99995598278708	0.48110	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	7.234000	0.77597	8.139000	0.76678	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.782000	0.36987	1.0:0.0:0.0:0.0	16.341	0.82913	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	.	.	.	.	.	.	.	.	0.05	356.43	35	chr2	1922414	.	A	G	356.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.683;DP=603;ExcessHet=0;FS=73.474;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.26;ReadPosRankSum=1.19;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,23:158:99:0|1:1922412_C_T:368,0,5168:1922412	9	0	1	0
chr2	1922416	1922416	C	G	exonic	MYT1L	.	nonsynonymous SNV	MYT1L:NM_001303052:exon10:c.G1353C:p.K451N,MYT1L:NM_001329845:exon10:c.G1353C:p.K451N,MYT1L:NM_001329846:exon10:c.G1353C:p.K451N,MYT1L:NM_001329847:exon10:c.G1353C:p.K451N,MYT1L:NM_001329848:exon10:c.G1353C:p.K451N,MYT1L:NM_001329849:exon10:c.G1353C:p.K451N,MYT1L:NM_001329851:exon10:c.G1353C:p.K451N,MYT1L:NM_001329852:exon10:c.G1353C:p.K451N,MYT1L:NM_015025:exon10:c.G1353C:p.K451N,MYT1L:NM_001329844:exon11:c.G1353C:p.K451N	Mental retardation, autosomal dominant 39, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0214902975924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.85e-07	4.38e-05	0	1.377e-06	9.008e-07	0	0	.	.	0	0	0	0	0	0	9.008e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.41096	D	0.417	0.15355	T	0.988	0.62325	D	0.613	0.53279	P	0.000002	0.62929	D	0.131223	0.999907	0.50806	D	2.32	0.66415	M	0.88	0.46028	T	-0.86	0.23808	N	0.506	0.53796	-1.0967	0.04514	T	0.091	0.34710	T	10	0.19530207	0.35377	T	0.02149	0.44265	T	0.119	0.33137	0.262	0.20631	0.168254554758	0.16434	0.4438789170227145	0.44305	1.52043483366	0.87419	0.685524106026	0.65062	T	0.050378	0.28578	T	-0.144078	0.29243	T	-0.444734	0.28280	T	0.929435193538666	0.59350	D	0.963704	0.88767	D	0.13573089	0.31490	0.1420035	0.33798	0.13573089	0.31490	0.1420035	0.33797	-10.603	0.77437	D	0.25720278791488604	0.34762	0.858	0.88830	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.385714	0.30632	18.50	0.99636334943281102	0.76387	0.88235	0.48072	D	AEFDBI	0.506906	0.53743	D	-0.239068154143246	0.31543	1.76969	-0.253152141008948	0.29664	1.663704	0.0903339886032707	0.16107	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.91	-0.673	0.10802	0.549000	0.23037	0.291000	0.16873	-0.171000	0.11205	0.999000	0.42656	0.990000	0.31317	0.842000	0.39752	0.0:0.2117:0.0:0.7883	11.465	0.49479	697	0.58201	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	359.43	35	chr2	1922416	.	C	G	359.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.947;DP=595;ExcessHet=0;FS=73.905;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.29;ReadPosRankSum=1.1;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,23:157:99:0|1:1922412_C_T:371,0,5129:1922412	9	0	1	0
chr2	25161179	25161179	G	C	exonic	POMC	.	nonsynonymous SNV	POMC:NM_000939:exon3:c.C706G:p.R236G,POMC:NM_001319205:exon3:c.C706G:p.R236G,POMC:NM_001035256:exon4:c.C706G:p.R236G,POMC:NM_001319204:exon4:c.C706G:p.R236G	Obesity, adrenal insufficiency, and red hair due to POMC deficiency	0	1519	3	0	0	3	0.000986518	.	.	.	28395	Obesity,_early-onset,_susceptibility_to|POMC-related_disorder|Obesity_due_to_pro-opiomelanocortin_deficiency|Inherited_obesity|not_provided	MedGen:C4016341|.|MONDO:MONDO:0012335,MedGen:C1857854,OMIM:609734,Orphanet:71526|MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.816	.	0.0030	0.00239617	0.0023	0.0009	0.0029	0	0.0002	0.0035	0.0011	0	0.0025808	399	154602	rs28932472	0.0045	0.0045	0.0046	0.0044	0.0053	0.0044	0.0044	0.0052	0.0051	0.0006	0.0032	0.0070	0	0.0002	0.0002	0.0053	0.0050	0.0001	0.0028	0.0028	0.0027	0.0029	0.0054	0.0026	0.0025	0.0045	0.0041	0.0010	0.0099	0.0054	0.0086	0	0.0002	0	0.0038	0.0038	0	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.61	0.76335	M	-1.97	0.85173	D	-6.37	0.91058	D	0.983	0.99337	0.599	0.91880	D	0.721	0.90426	D	10	0.017676592	0.00379	T	.	.	.	0.816	0.94085	.	.	0.955276429607	0.95480	0.6842527917949313	0.68364	1.13119082289	0.78624	0.580391466618	0.50140	T	0.522154	0.83309	D	0.0968016	0.63945	D	0.369998	0.91073	D	0.0484975188811876	0.05232	T	0.817418	0.48050	T	0.8182313	0.85101	0.73535645	0.84359	0.83719444	0.86409	0.76440287	0.86083	-8.779	0.66263	D	0.8018337034202868	0.87844	0.844	0.79442	P	.;.;.;.;.	.;.;.;.;.	5.586763	0.92348	32	0.99880495584688278	0.95653	0.96289	0.68414	D	AEFDBHCIJ	0.888240	0.82118	D	0.856714419905877	0.89489	9.992026	0.774459729071881	0.87966	9.409108	0.999999999994341	0.74766	0.696267	0.57585	0	0.685571	0.66316	0	0.691665	0.62940	0	0.56751	0.32155	0	.	.	5.15	4.24	0.49486	6.205000	0.72079	9.558000	0.80989	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.6899:0.3101	11.826	0.51539	552	0.72024	Pro-opiomelanocortin/corticotropin, ACTH, central region|Pro-opiomelanocortin/corticotropin, ACTH, central region;Pro-opiomelanocortin/corticotropin, ACTH, central region|Pro-opiomelanocortin/corticotropin, ACTH, central region;Pro-opiomelanocortin/corticotropin, ACTH, central region|Pro-opiomelanocortin/corticotropin, ACTH, central region;Pro-opiomelanocortin/corticotropin, ACTH, central region|Pro-opiomelanocortin/corticotropin, ACTH, central region;Pro-opiomelanocortin/corticotropin, ACTH, central region	.	.	.	.	.	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	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	931.43	35	chr2	25161179	.	G	C	931.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.2;DP=438;ExcessHet=0;FS=3.511;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.89;ReadPosRankSum=1.23;SOR=0.576	GT:AD:DP:GQ:PL	0/1:74,44:118:99:943,0,1704	9	0	1	0
chr2	25749733	25749733	C	T	exonic	ASXL2	.	nonsynonymous SNV	ASXL2:NM_001369347:exon9:c.G1043A:p.G348E,ASXL2:NM_001369346:exon10:c.G1649A:p.G550E,ASXL2:NM_018263:exon11:c.G1823A:p.G608E	Shashi-Pena syndrome, Autosomal dominant	427	1093	2	0	0	2	0.000914077	.	.	.	1620283	Inborn_genetic_diseases|not_provided|ASXL2-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.125	0.0209979025413	8.1e-05	0.000399361	0.0003	0	0.0008	0	0	0.0004	0	0	0.0002393	37	154602	rs200842793	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0002	0.0008	0.0007	0	0.0011	4.565e-05	0	0	0.0015	0.0002	0.0004	4.069e-05	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0002	0.0011	0.0009	4.815e-05	0	0.0016	0	0	0	0.0034	0.0003	0.0009	0	0.002	0.72154	D	0.844	0.29639	T	0.813	0.57599	P	0.478	0.55268	P	0.088797	0.20462	N	0.551240	0.644416	0.32905	D	2.045	0.56016	M	0.99	0.41750	T	-0.51	0.18670	N	0.336	0.39558	-0.8491	0.52031	T	0.141	0.46016	T	10	0.022847444	0.00581	T	0.020998	0.43698	T	0.125	0.34456	.	.	0.0934897674506	0.08844	0.36358191546992014	0.36272	0.462022161633	0.45735	0.498874366283	0.38671	T	0.175868	0.52560	T	-0.381999	0.03026	T	-0.371932	0.36662	T	0.0732275526110867	0.09098	T	0.888711	0.61924	D	0.16782938	0.37203	0.20793429	0.45073	0.16782938	0.37203	0.20793429	0.45072	-3.662	0.18759	T	0.17587746179103347	0.22413	0.190	0.40810	B	.;.;.	.;.;.	3.399299	0.47106	22.4	0.98892028988450542	0.48019	0.84822	0.43913	D	AEFBI	0.108968	0.21660	N	0.14244361078778	0.48455	3.057532	0.17920969827386	0.48709	3.083	0.845253600631629	0.24941	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.08	4.27	0.50009	1.001000	0.29384	1.428000	0.26422	0.549000	0.26987	0.993000	0.37899	0.999000	0.35428	0.980000	0.58198	0.1396:0.7263:0.1341:0.0	11.692	0.50785	704	0.57414	.;.;.	.	.	.	.	.	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	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	1950.14	34	chr2	25749733	.	C	T	1950.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.54;DP=460;ExcessHet=0.2348;FS=3.631;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=0.399;SOR=0.446	GT:AD:DP:GQ:PL	0/1:63,42:105:99:1051,0,1743	8	0	2	0
chr2	29071203	29071203	T	C	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.A3059G:p.Q1020R	.	0	1503	19	0	0	19	0.00628099	.	.	.	190300	Retinitis_pigmentosa|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.026	.	0.0002	0.00279553	0.0086	0.0024	0.0024	0	0.0121	0.0128	0.0074	0.0010	0.0068757	1063	154602	rs200367963	0.0087	0.0087	0.0089	0.0085	0.0098	0.0086	0.0085	0.0097	0.0096	0.0018	0.0029	0.0169	0	0.0115	0.0056	0.0098	0.0074	0.0009	0.0063	0.0063	0.0066	0.0059	0.0097	0.0059	0.0058	0.0091	0.0089	0.0014	0	0.0043	0.0179	0	0.0085	0	0.0097	0.0071	0.0006	0.117	0.28271	T	0.323	0.18959	T	0.063	0.23376	B	0.018	0.18489	B	0.559511	0.11351	N	0.796203	1	0.08975	N	.	.	.	2.01	0.21291	T	-3.06	0.63090	D	0.084	0.06059	-0.9912	0.32295	T	0.041	0.17700	T	10	0.0048058033	0.00102	T	.	.	.	0.026	0.05648	.	.	0.249502417897	0.24576	0.21886280284673723	0.21802	0.0140011853721	0.01334	.	.	.	0.019667	0.15628	T	-0.567802	0.00228	T	-0.57899	0.14634	T	0.00539879757628147	0.00059	T	0.376562	0.08996	T	0.16208237	0.36261	0.17164351	0.39362	0.1437882	0.33031	0.17164351	0.39361	-3.378	0.14762	T	.	.	0.103	0.18539	B	.	.	1.436758	0.18559	13.80	0.98913200757516251	0.48418	0.42764	0.26950	N	AEFDBI	0.121755	0.23657	N	-0.644156492515505	0.17630	0.9088619	-0.611557115836324	0.19196	1.028853	0.109324984171799	0.16604	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.29	1.51	0.22094	0.539000	0.22885	0.395000	0.17934	0.609000	0.47794	0.152000	0.23684	0.953000	0.29079	0.385000	0.26447	0.1293:0.2894:0.0:0.5813	5.306	0.15116	449	0.79428	.	.	.	.	.	.	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	0.006552	0.005051	0.000000	0.000000	0.050000	0.000000	0.030488	0.007576	0.15	12536.4	34	chr2	29071203	.	T	C	12536.4	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.883;DP=802;ExcessHet=0;FS=3.241;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=32.14;ReadPosRankSum=1.98;SOR=0.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,101:194:99:0|1:29071203_T_C:3912,0,3526:29071203	8	1	1	0
chr2	29071204	29071204	G	T	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.C3058A:p.Q1020K	.	0	1507	15	0	0	15	0.00495213	.	.	.	190299	Retinitis_pigmentosa|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.105	.	.	0.00279553	0.0085	0.0024	0.0024	0	0.0121	0.0127	0.0074	0.0010	0.0068693	1062	154602	rs201355503	0.0087	0.0087	0.0089	0.0085	0.0098	0.0086	0.0085	0.0097	0.0096	0.0017	0.0029	0.0169	0	0.0115	0.0053	0.0098	0.0074	0.0009	0.0063	0.0063	0.0066	0.0059	0.0097	0.0059	0.0058	0.0091	0.0088	0.0014	0	0.0043	0.0179	0	0.0085	0	0.0097	0.0071	0.0006	0.148	0.24857	T	0.356	0.17166	T	0.454	0.36182	P	0.09	0.29851	B	0.559511	0.11351	N	0.796203	1	0.08975	N	.	.	.	2.0	0.21473	T	-3.06	0.63090	D	0.25	0.28264	-1.0517	0.13926	T	0.051	0.21611	T	10	0.0063916743	0.00145	T	.	.	.	0.105	0.29889	.	.	0.393316636838	0.38940	0.2500554077571631	0.24919	0.0237916299832	0.02408	.	.	.	0.034351	0.23286	T	-0.541652	0.00328	T	-0.541427	0.18156	T	0.0217380883788979	0.00880	T	0.458954	0.13262	T	0.35774997	0.57664	0.20621154	0.44825	0.30511588	0.53360	0.20621154	0.44824	-3.734	0.19821	T	.	.	0.123	0.25689	B	.	.	3.092638	0.41652	21.4	0.98464053864446577	0.41780	0.67894	0.33599	D	AEFDBI	0.114024	0.22475	N	-0.131883062482818	0.36009	2.075708	-0.0888338562462418	0.35850	2.079073	0.590696172868296	0.21644	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.29	4.38	0.52019	2.585000	0.45776	8.340000	0.76993	0.526000	0.24426	0.441000	0.26495	1.000000	0.68203	0.475000	0.28453	0.0:0.1335:0.728:0.1385	11.656	0.50578	449	0.79428	.	.	.	.	.	.	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	0.006552	0.005051	0.000000	0.000000	0.050000	0.000000	0.030488	0.007576	0.15	12536.4	34	chr2	29071204	.	G	T	12536.4	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.082;DP=800;ExcessHet=0;FS=3.241;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=32.14;ReadPosRankSum=1.86;SOR=0.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,101:194:99:0|1:29071203_T_C:3912,0,3526:29071203	8	1	1	0
chr2	33347499	33347499	G	A	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_001166264:exon21:c.G2885A:p.R962Q,LTBP1:NM_001166266:exon21:c.G2726A:p.R909Q,LTBP1:NM_000627:exon22:c.G3011A:p.R1004Q,LTBP1:NM_001166265:exon22:c.G2852A:p.R951Q,LTBP1:NM_206943:exon26:c.G3989A:p.R1330Q	.	430	1028	59	5	0	69	0.0324706	.	.	YES	719865	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.329	.	0.0048	0.00239617	0.0046	0.0010	0.0027	0	0.0011	0.0059	0.0110	0.0064	0.0044113	682	154602	rs141080282	0.0046	0.0046	0.0045	0.0048	0.0326	0.0045	0.0045	0.0288	0.0273	0.0015	0.0041	0.0065	2.519e-05	0.0008	0.0326	0.0047	0.0060	0.0062	0.0044	0.0044	0.0046	0.0042	0.0083	0.0041	0.0040	0.0071	0.0067	0.0009	0	0.0083	0.0069	0	0.0008	0.0272	0.0061	0.0095	0.0056	0.007	0.61437	D	0.089	0.46862	T	0.937	0.65571	P	0.361	0.59331	B	.	.	.	.	0.986415	0.41471	D	0.84	0.21119	L	-1.45	0.81559	T	-1.77	0.53577	N	0.17	0.23506	-0.2989	0.75015	T	0.443	0.78020	T	9	0.0047613382	0.00101	T	.	.	.	0.329	0.65126	.	.	0.20808081866	0.20439	0.5008590233587867	0.50007	0.166082223785	0.18743	0.329884946346	0.14917	T	0.154079	0.49521	T	-0.302344	0.08439	T	-0.203068	0.54355	T	0.0117555559307881	0.00181	T	0.90461	0.67274	D	0.0548804	0.10592	0.079973504	0.18051	0.0548804	0.10591	0.079973504	0.18050	-3.652	0.18715	T	.	.	0.084	0.12750	B	.;.;.;.;.;.	.;.;.;.;.;.	3.092193	0.41643	21.4	0.9962135397256433	0.75413	0.58970	0.30787	D	AEFBI	0.116140	0.22806	N	-0.261098715989665	0.30663	1.711816	-0.257002608460044	0.29531	1.655216	0.968231963240508	0.29037	0.706548	0.73137	0	0.588015	0.36545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.19	3.32	0.37134	1.551000	0.35841	7.375000	0.58420	-0.126000	0.13398	0.354000	0.25792	1.000000	0.68203	0.290000	0.24260	0.0741:0.1778:0.6105:0.1376	5.496	0.16096	850	0.35610	.;.;.;.;.;.	.	.	.	.	.	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	0.015152	0.024457	0.046784	0.000000	0.043103	0.027439	0.003788	0.05	948.43	33	chr2	33347499	.	G	A	948.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=412;ExcessHet=0;FS=2.812;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-1.343;SOR=1.024	GT:AD:DP:GQ:PL	0/1:52,40:92:99:960,0,1254	9	0	1	0
chr2	43574474	43574474	G	C	exonic	THADA	.	nonsynonymous SNV	THADA:NM_001083953:exon11:c.C1591G:p.L531V,THADA:NM_001271643:exon11:c.C1591G:p.L531V,THADA:NM_001271644:exon11:c.C1591G:p.L531V,THADA:NM_001345923:exon11:c.C1591G:p.L531V,THADA:NM_001345924:exon11:c.C1471G:p.L491V,THADA:NM_022065:exon11:c.C1591G:p.L531V,THADA:NM_001345925:exon12:c.C1591G:p.L531V	.	424	1090	7	1	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	.	0.0002	0.00279553	0.0022	0	0.0002	0	0	0.0002	0.0012	0.0146	0.0017594	272	154602	rs201592210	0.0011	0.0011	0.0006	0.0015	0.0151	0.0010	0.0010	0.0145	0.0142	2.987e-05	0.0002	0	0	0	0.0009	0.0002	0.0011	0.0151	0.0006	0.0006	0.0005	0.0007	0.0143	0.0005	0.0004	0.0116	0.0106	4.813e-05	0	6.536e-05	0	0	0	0.0102	0.0002	0.0005	0.0143	0.008	0.91255	D	0.018	0.92824	D	0.999	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	0.999731	0.48635	D	2.65	0.77586	M	1.24	0.68474	T	-2.06	0.51157	N	0.617	0.71942	-0.0749	0.80667	T	0.495	0.80840	T	10	0.004176259	0.00083	T	.	.	.	0.302	0.62290	.	.	0.487348339145	0.48367	0.4481330787601541	0.44731	.	.	0.460464268923	0.33375	T	0.022522	0.35049	T	-0.152979	0.27845	T	0.0198042	0.71617	D	0.0728186114367229	0.09042	T	0.933907	0.75239	D	0.3528086	0.57284	0.33974877	0.59736	0.3528086	0.57284	0.33974877	0.59736	-8.792	0.66348	D	.	.	0.278	0.53214	B	.;.;.;.;.	.;.;.;.;.	4.506969	0.70541	25.5	0.99850857536313498	0.93013	0.99311	0.94324	D	AEFBI	0.859689	0.77741	D	0.826195839115585	0.87713	9.314701	0.823421429889501	0.91371	10.85346	0.999999999591199	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.94	5.94	0.96165	7.598000	0.82000	11.896000	0.99222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.359	0.98850	679	0.60090	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.007576	0.05	1629.43	33	chr2	43574474	.	G	C	1629.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.964;DP=447;ExcessHet=0;FS=2.205;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-1.097;SOR=0.948	GT:AD:DP:GQ:PL	0/1:66,68:134:99:1641,0,1673	9	0	1	0
chr2	62222624	62222624	C	T	exonic	B3GNT2	.	nonsynonymous SNV	B3GNT2:NM_001319075:exon2:c.C404T:p.P135L,B3GNT2:NM_006577:exon2:c.C404T:p.P135L	.	.	.	.	.	.	.	.	.	.	.	2377244	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.123	0.0224433264512	.	0.000199681	1.653e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs535480021	3.215e-05	3.215e-05	2.45e-05	3.988e-05	4.637e-05	2.478e-05	2.22e-05	2.828e-05	2.507e-05	0	0	0	0	0	0	3.777e-05	1.656e-05	4.637e-05	1.97e-05	1.969e-05	1.285e-05	2.686e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0.0002	0	0	0	0	0.0002	0.024	0.47745	D	0.022	0.57587	D	0.053	0.22573	B	0.015	0.17295	B	0.000010	0.62929	D	0.150393	1	0.81001	D	2.62	0.76659	M	1.36	0.34452	T	-8.27	0.96930	D	0.182	0.19728	-0.9868	0.33396	T	0.087	0.33746	T	10	0.103655845	0.19067	T	0.022443	0.45329	T	0.123	0.34020	0.567	0.68901	0.296721761885	0.29290	0.9049076744405166	0.90463	0.461218712443	0.45668	0.460066586733	0.33319	T	0.643502	0.89096	D	-0.261963	0.12671	T	-0.411414	0.32063	T	0.906336843967438	0.56032	D	0.816918	0.47330	T	0.5942804	0.72382	0.3690296	0.62181	0.5942804	0.72383	0.3690296	0.62180	-7.516	0.57723	D	.	.	0.236	0.47128	B	.;.	.;.	3.184050	0.43231	21.7	0.99049511202027596	0.51207	0.89046	0.49281	D	AEFBCI	0.281055	0.39473	N	-0.0257052125072437	0.40695	2.42108	0.0815328344119464	0.43619	2.660043	0.999997413493928	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	2.82	0.32061	3.374000	0.52132	3.485000	0.38675	0.599000	0.40250	0.996000	0.39380	0.998000	0.33993	0.936000	0.47498	0.12:0.6988:0.116:0.0652	8.339	0.31394	554	0.71839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2120.43	36	chr2	62222624	.	C	T	2120.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.72;DP=503;ExcessHet=0;FS=5.416;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.349;SOR=0.642	GT:AD:DP:GQ:PL	0/1:93,81:174:99:2132,0,2332	9	0	1	0
chr2	68977657	68977657	C	A	exonic	GKN1	.	nonsynonymous SNV	GKN1:NM_019617:exon3:c.C87A:p.D29E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00471035700773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.858e-07	6.841e-07	1.365e-06	0	9.02e-07	0	0	.	.	0	0	0	0	0	0	9.02e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.11085	T	0.055	0.46862	T	0.006	0.13644	B	0.004	0.10090	B	0.943135	0.08339	N	0.975430	1	0.08975	N	1.155	0.29575	L	1.01	0.41058	T	-0.51	0.15986	N	0.107	0.09207	-1.0194	0.23910	T	0.074	0.29897	T	10	0.046344995	0.03814	T	0.00471	0.11722	T	0.003	0.00094	0.3	0.26683	0.236890367714	0.23314	0.3252180443627265	0.32434	0.162093636695	0.18288	0.290204167366	0.08951	T	0.024545	0.18527	T	-0.333969	0.05816	T	-0.7175	0.04917	T	0.0316618853874461	0.02252	T	0.340266	0.07351	T	0.032233413	0.03210	0.024716413	0.00496	0.032233413	0.03210	0.024716413	0.00496	.	.	.	.	.	0.148	0.32780	B	.	.	-0.226390	0.02960	0.438	0.87139710768757417	0.17016	0.02447	0.06888	N	AEFDGBI	0.063526	0.12280	N	-1.22798131369658	0.04598	0.2078591	-1.30718656154007	0.04337	0.2043297	0.999998654567299	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.12	-2.49	0.06034	-1.233000	0.03043	-3.406000	0.02811	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3664:0.2714:0.0:0.3621	3.820	0.08346	864	0.32732	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1550.43	33	chr2	68977657	.	C	A	1550.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.49;DP=473;ExcessHet=0;FS=2.122;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=0.04;SOR=0.522	GT:AD:DP:GQ:PL	0/1:85,61:146:99:1562,0,2265	9	0	1	0
chr2	69840971	69840971	C	G	exonic	GMCL1	.	nonsynonymous SNV	GMCL1:NM_178439:exon4:c.C511G:p.R171G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	0.0463740586445	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961012636	8.21e-06	8.209e-06	9.531e-06	6.877e-06	0.0001	4.38e-06	3.46e-06	4.359e-05	2.767e-05	0	0.0001	0	0	0	0	4.497e-06	3.313e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0001	2.18e-06	8.2e-07	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.009	0.57480	D	0.036	0.52060	D	0.439	0.35873	B	0.331	0.42107	B	0.000000	0.84330	D	0.000000	0.999908	0.50806	D	.	.	.	-0.39	0.69158	T	-3.47	0.67824	D	0.895	0.89465	-1.0348	0.18920	T	0.121	0.42058	T	10	0.6631048	0.70269	D	0.046374	0.62428	D	0.418	0.72780	0.528	0.63412	0.655352004	0.65248	0.7357330912422197	0.73518	0.772625125481	0.64851	0.666774749756	0.62378	T	0.596996	0.87028	D	0.186731	0.72661	D	0.113315	0.77791	D	0.501163125038147	0.32672	D	0.743826	0.36376	T	0.4976334	0.66956	0.40566686	0.64961	0.4976334	0.66956	0.40566686	0.64961	-11.325	0.81410	D	.	.	0.595	0.68661	P	.	.	3.284007	0.45011	22.0	0.99060114111874131	0.51459	0.88284	0.48142	D	AEFBI	0.298155	0.40755	N	-0.370297478774734	0.26534	1.448798	-0.255102892757115	0.29596	1.65938	0.291200755382601	0.19088	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.04	2.12	0.26372	1.126000	0.30958	2.834000	0.35039	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.5384:0.4615:0.0:0.0	9.781	0.39812	581	0.69614	BTB/POZ domain|BTB/POZ domain|BTB/POZ 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	.	.	.	.	.	.	.	.	0.05	1282.43	33	chr2	69840971	.	C	G	1282.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.274;DP=418;ExcessHet=0;FS=0.729;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.961;SOR=0.582	GT:AD:DP:GQ:PL	0/1:49,56:105:99:1294,0,1097	9	0	1	0
chr2	74047851	74047851	C	T	exonic	TET3	.	nonsynonymous SNV	TET3:NM_001366022:exon3:c.C1655T:p.P552L,TET3:NM_001287491:exon4:c.C1934T:p.P645L	.	0	225	1	0	0	1	0.00221729	.	.	.	708363	not_provided|TET3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.039	.	0.0051	0.00279553	0.0012	0.0148	0	0	0	4.744e-05	0.0036	0.0001	0.0010349	160	154602	rs201583228	0.0004	0.0004	0.0005	0.0004	0.0149	0.0004	0.0004	0.0138	0.0134	0.0149	0.0004	0	0	0	0.0002	4.23e-05	0.0007	0.0001	0.0041	0.0041	0.0041	0.0041	0.0142	0.0038	0.0037	0.0133	0.0129	0.0142	0	0.0015	0	0	0	0	2.941e-05	0.0033	0	0.067	0.35918	T	0.133	0.39954	T	.	.	.	.	.	.	.	.	.	.	0.61549	0.30824	N	.	.	.	1.96	0.22270	T	-0.66	0.19085	N	0.278	0.34767	-1.0977	0.04380	T	0.015	0.06042	T	9	0.0042250156	0.00084	T	.	.	.	0.039	0.10176	.	.	0.0675242888579	0.06100	0.2792777632248546	0.27840	0.156553927278	0.17672	0.454389572144	0.32544	T	.	.	.	-0.606218	0.00133	T	-0.631243	0.10320	T	0.0151178663069045	0.00328	T	0.734827	0.35112	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.05800	B	.;.	.;.	2.016115	0.25620	16.83	0.38818381978487354	0.02641	0.97491	0.75092	D	AEFBI	0.187400	0.31469	N	-0.204400986026125	0.32953	1.864144	-0.173378876520832	0.32520	1.850925	0.999999876677721	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	4.96	4.02	0.45968	1.838000	0.38851	2.642000	0.33760	0.549000	0.26987	0.133000	0.23395	0.485000	0.25122	0.005000	0.06747	0.1676:0.8324:0.0:0.0	12.436	0.54934	559	0.71409	.;.	.	.	.	.	.	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	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1148.43	35	chr2	74047851	.	C	T	1148.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.26;DP=400;ExcessHet=0;FS=2.044;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=0.013;SOR=0.472	GT:AD:DP:GQ:PL	0/1:27,40:67:99:1160,0,585	9	0	1	0
chr2	75687859	75687859	A	T	exonic	GCFC2	.	nonsynonymous SNV	GCFC2:NM_001201334:exon11:c.T1151A:p.I384N,GCFC2:NM_003203:exon11:c.T1658A:p.I553N	.	433	1059	29	1	0	31	0.0144253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	.	0.0065	0.00439297	0.0090	0.0011	0.0022	0	0.0210	0.0110	0.0110	0.0106	0.0085575	1323	154602	rs41286003	0.0089	0.0089	0.0086	0.0092	0.0221	0.0088	0.0087	0.0190	0.0178	0.0008	0.0033	0.0459	5.053e-05	0.0196	0.0221	0.0080	0.0095	0.0119	0.0080	0.0080	0.0072	0.0088	0.0118	0.0076	0.0075	0.0093	0.0085	0.0013	0.0011	0.0046	0.0556	0	0.0212	0.0136	0.0088	0.0071	0.0118	0.0	0.91255	D	0.001	0.83351	D	0.963	0.55692	D	0.837	0.59984	P	0.247990	0.15570	N	0.649855	0.707577	0.81001	D	1.76	0.45711	L	0.43	0.56772	T	-5.17	0.84105	D	0.674	0.68169	-1.0069	0.27881	T	0.111	0.39912	T	10	0.010547429	0.00234	T	.	.	.	0.444	0.74657	.	.	0.804346720858	0.80252	0.6978294067936864	0.69723	0.557126499698	0.52338	0.35052549839	0.17998	T	0.282542	0.65529	T	-0.324844	0.06509	T	-0.229997	0.51771	T	0.0485459195345418	0.05241	T	0.884012	0.60664	D	0.7522641	0.81000	0.8183412	0.89433	0.7522641	0.81002	0.8183412	0.89433	-11.018	0.79757	D	.	.	0.500	0.64970	A	.;.	.;.	3.175650	0.43089	21.7	0.9913156376359108	0.53275	0.94369	0.60946	D	AEFBI	0.322456	0.42494	N	0.115307806236015	0.47176	2.947072	0.153225531536175	0.47312	2.963415	0.98693433088627	0.31153	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.7	5.7	0.88690	4.136000	0.57766	6.698000	0.56362	0.756000	0.94297	0.989000	0.36753	1.000000	0.68203	0.007000	0.07825	1.0:0.0:0.0:0.0	14.230	0.65432	951	0.11083	GC-rich sequence DNA-binding factor-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	0.016616	0.010101	0.009511	0.032164	0.050000	0.000000	0.009146	0.022727	0.05	1063.43	41	chr2	75687859	.	A	T	1063.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.2;DP=412;ExcessHet=0;FS=1.585;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.692;SOR=0.877	GT:AD:DP:GQ:PL	0/1:55,47:102:99:1075,0,1297	9	0	1	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	.	.	.	.	.	.	.	.	0.4	12818.0	371	chr2	94876618	.	C	G	12818.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.592;DP=2902;ExcessHet=10.3881;FS=1.546;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.49;MQRankSum=-16.9;QD=4.98;ReadPosRankSum=-3.186;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:246,43:289:99:0|1:94876587_C_A:1065,0,10200:94876587	2	0	8	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	0.45	17750.0	414	chr2	94876632	.	C	T	17750.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.235;DP=3296;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.17;MQRankSum=-17.88;QD=5.56;ReadPosRankSum=-1.61;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:265,59:324:99:0|1:94876587_C_A:1669,0,10865:94876587	1	0	9	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	.	.	.	.	.	.	.	.	0.45	22415.0	462	chr2	94876671	.	A	G	22415.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-5.483;DP=3731;ExcessHet=15.1594;FS=0.656;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=56.88;MQRankSum=-18.99;QD=6.13;ReadPosRankSum=4.6;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:292,76:368:99:0|1:94876671_A_G:2312,0,11911:94876671	1	0	9	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	0.45	22825.0	467	chr2	94876674	.	G	A	22825.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-5.542;DP=3741;ExcessHet=15.1594;FS=0.654;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=56.87;MQRankSum=-19.21;QD=6.22;ReadPosRankSum=4.81;SOR=0.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:292,76:368:99:0|1:94876671_A_G:2312,0,11911:94876671	1	0	9	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	0.4	9474.98	407	chr2	94876731	.	C	T	9474.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-2.787;DP=3262;ExcessHet=10.3881;FS=2.421;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.44;MQRankSum=-19.06;QD=3.04;ReadPosRankSum=-0.667;SOR=0.952	GT:AD:DP:GQ:PL	0/1:303,58:361:99:955,0,7618	2	0	8	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T,TEKT4:NM_144705:exon6:c.C1276A:p.P426T	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	3218.11	408	chr2	94876737	.	C	A	3218.11	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.43;DP=2132;ExcessHet=2.8389;FS=1.922;InbreedingCoeff=-0.3316;MLEAC=5;MLEAF=0.25;MQ=57.08;MQRankSum=-12.5;QD=1.67;ReadPosRankSum=-1.101;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:343,25:368:17:0|1:94876737_C_A:17,0,14108:94876737	5	0	5	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P,TEKT4:NM_144705:exon6:c.A1279C:p.T427P	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	3284.14	401	chr2	94876740	.	A	C	3284.14	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.303;DP=2122;ExcessHet=2.8389;FS=1.912;InbreedingCoeff=-0.3332;MLEAC=5;MLEAF=0.25;MQ=57.08;MQRankSum=-12.57;QD=1.72;ReadPosRankSum=-1.808;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:339,25:364:29:0|1:94876737_C_A:29,0,14010:94876737	5	0	5	0
chr2	95406973	95406973	G	A	exonic	FAHD2A	.	nonsynonymous SNV	FAHD2A:NM_016044:exon3:c.G278A:p.R93Q	.	.	.	.	.	.	.	.	.	.	.	3965693	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00378682940063	7.7e-05	.	8.703e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs373739961	1.095e-05	1.094e-05	1.498e-05	6.877e-06	7.559e-05	6.48e-06	5.25e-06	2.004e-05	1.055e-05	0	0	0	7.559e-05	0	0	1.169e-05	0	0	2.628e-05	2.627e-05	3.853e-05	1.345e-05	7.236e-05	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.236e-05	0	0	0	0	0	0	1.47e-05	0	0	0.448	0.46129	T	0.694	0.57104	T	0.045	0.21781	B	0.019	0.18783	B	0.000013	0.62929	D	0.069040	0.976157	0.39251	D	2.255	0.64187	M	1.52	0.30669	T	-1.04	0.37375	N	0.68	0.68690	-1.0789	0.07563	T	0.062	0.25744	T	10	0.189769	0.34591	T	0.003787	0.08837	T	0.054	0.15330	.	.	0.356072328145	0.35220	0.5774194750465137	0.57670	0.642743152549	0.57834	0.606582641602	0.53834	T	0.053908	0.29574	T	-0.271755	0.11562	T	-0.446606	0.28071	T	0.336421967175082	0.26481	T	0.746025	0.40598	T	0.07032801	0.15481	0.071857944	0.15436	0.07032801	0.15481	0.071857944	0.15436	-6.133	0.47379	T	.	.	0.111	0.24464	B	.;.;.	.;.;.	3.617555	0.51181	23.1	0.99872319765186468	0.94989	0.94325	0.60806	D	AEFDBI	0.722339	0.67230	D	-0.185357189273209	0.33742	1.917903	-0.0771581307856302	0.36338	2.113355	0.77837911739838	0.23794	0.706548	0.73137	0	0.643519	0.57511	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.35	3.35	0.37468	7.390000	0.79098	7.510000	0.59607	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.525000	0.29590	0.0:0.0:1.0:0.0	12.539	0.55506	503	0.75780	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1184.43	35	chr2	95406973	.	G	A	1184.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.71;DP=429;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.59;MQRankSum=-0.698;QD=10.12;ReadPosRankSum=-0.566;SOR=0.605	GT:AD:DP:GQ:PL	0/1:63,54:117:99:1196,0,1520	9	0	1	0
chr2	95482503	95482503	T	A	exonic	TRIM43B	.	nonsynonymous SNV	TRIM43B:NM_001164464:exon2:c.A212T:p.K71M	.	442	1068	11	1	0	13	0.00604933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0063	0.0005	0.0035	0	0	0.0003	0	0.0307	0.0005379	14	26028	rs528245128	0.0008	0.0008	0.0005	0.0012	0.0119	0.0008	0.0008	0.0113	0.0111	6.005e-05	0.0004	0.0001	0	0	0.0039	7.668e-05	0.0007	0.0119	0.0006	0.0006	0.0003	0.0008	0.0133	0.0005	0.0004	0.0106	0.0097	0.0002	0	0.0001	0	0	0	0	0.0002	0.0010	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.555	0.74557	M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0054166913	0.00119	T	.	.	.	.	.	.	.	.	.	0.19264921184376166	0.19182	.	.	0.39418014884	0.24257	T	0.114853	0.43298	T	.	.	.	.	.	.	.	.	.	0.642936	0.25461	T	0.13051194	0.30451	0.11577202	0.27948	0.13051194	0.30451	0.11577202	0.27948	-9.701	0.72102	D	.	.	0.505	0.64812	A	.;.	.;.	2.219473	0.28321	17.76	0.73550769003052718	0.10369	0.00851	0.03397	N	AEFI	.	.	.	.	.	.	.	.	.	2.58919883908351E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.058706	0.01089	0	0.0431032	0.02392	1.93	1.93	0.24985	-0.568000	0.06000	-0.327000	0.09919	0.364000	0.20138	0.001000	0.13787	0.000000	0.08366	0.016000	0.10718	0.0:0.1927:0.0:0.8073	3.706	0.07931	489	0.76795	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002387	0.000000	0.004144	0.008929	0.000000	0.000000	0.000000	0.000000	0.05	1055.43	34	chr2	95482503	.	T	A	1055.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.746;DP=377;ExcessHet=0;FS=3.578;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=32.35;MQRankSum=-2.379;QD=16.75;ReadPosRankSum=-1.941;SOR=1.222	GT:AD:DP:GQ:PL	0/1:26,37:63:99:1067,0,755	9	0	1	0
chr2	95599427	95599427	C	G	exonic	TRIM43	.	nonsynonymous SNV	TRIM43:NM_138800:exon7:c.C1195G:p.P399A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.00408865323176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.204e-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	0.999	0.92359	D	.	.	.	.	1	0.08975	N	2.455	0.71248	M	-0.35	0.68616	T	-6.83	0.93020	D	0.166	0.17553	-0.6693	0.61860	T	0.411	0.75950	T	9	0.6900152	0.71797	D	0.004089	0.09775	T	0.168	0.42943	0.822	0.93461	0.65657956353	0.65371	0.02858168563135497	0.02808	3.36241963825	0.99660	0.470888495445	0.34803	T	0.136473	0.46887	T	-0.133226	0.30975	T	-0.429147	0.30033	T	0.793233692646027	0.45902	D	0.745225	0.36553	T	0.43590972	0.63138	0.29793727	0.55827	0.43590972	0.63139	0.29793727	0.55826	-11.305	0.81304	D	.	.	0.480	0.63642	A	.	.	2.382552	0.30587	18.48	0.97255023674632679	0.33061	0.00152	0.00917	N	AEFI	0.015989	0.00334	N	-0.274542262839768	0.30134	1.677481	-0.612236824090095	0.19178	1.027839	1.14875690113885E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.63	-0.485	0.11465	1.949000	0.39938	-0.124000	0.11690	0.389000	0.20474	0.048000	0.21332	0.000000	0.08366	0.594000	0.31239	0.0:0.4773:0.3104:0.2123	2.718	0.04871	470	0.78111	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY 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	.	.	.	.	.	.	.	.	0.0625	46.4	3	chr2	95599427	.	C	G	46.4	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.842;DP=25;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.063;MQ=36.63;MQRankSum=-0.842;QD=9.28;ReadPosRankSum=-0.524;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:55:0|1:95599417_C_T:55,0,120:95599417	7	0	1	2
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	10728.0	198	chr2	95855390	.	T	C	10728.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=3.24;DP=2185;ExcessHet=22.563;FS=21.098;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.81;MQRankSum=-10.64;QD=5.08;ReadPosRankSum=-6.398;SOR=2.057	GT:AD:DP:GQ:PL	0/1:197,43:240:99:796,0,5279	0	0	10	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	29732.0	323	chr2	95855549	.	T	C	29732.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.71;DP=3043;ExcessHet=22.563;FS=10.71;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.38;MQRankSum=-11.67;QD=10.06;ReadPosRankSum=0.065;SOR=1.292	GT:AD:DP:GQ:PL	0/1:173,129:302:99:2779,0,4737	0	0	10	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	23128.0	277	chr2	95855576	.	A	G	23128.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.388;DP=2563;ExcessHet=22.563;FS=25.938;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=46.02;MQRankSum=-11.14;QD=9.29;ReadPosRankSum=-3.416;SOR=1.932	GT:AD:DP:GQ:PL	0/1:174,81:255:99:2242,0,4663	0	0	10	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	.	.	.	.	.	.	.	.	0.4	2532.98	278	chr2	95855586	.	T	C	2532.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.765;DP=2381;ExcessHet=10.3881;FS=20.257;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=47.03;MQRankSum=-5.391;QD=1.31;ReadPosRankSum=-1.294;SOR=2.4	GT:AD:DP:GQ:PL	0/1:221,28:249:99:209,0,8728	2	0	8	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	16467.0	271	chr2	95855588	.	T	C	16467.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.817;DP=2387;ExcessHet=22.563;FS=33.426;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=47.27;MQRankSum=-10.54;QD=7.16;ReadPosRankSum=-3.626;SOR=2.329	GT:AD:DP:GQ:PL	0/1:178,66:244:99:1698,0,4974	0	0	10	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	.	.	.	.	.	.	.	.	0.35	3460.98	101	chr2	95859895	.	T	C	3460.98	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.147;DP=709;ExcessHet=7.0302;FS=1.515;InbreedingCoeff=-0.5391;MLEAC=7;MLEAF=0.35;MQ=58.18;MQRankSum=-1.883;QD=7.09;ReadPosRankSum=-0.362;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,14:86:99:.:.:286,0,2941:.	3	0	7	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	10909.0	176	chr2	95859969	.	A	AT	10909.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.932;DP=1221;ExcessHet=22.563;FS=3.703;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.94;MQRankSum=-7.848;QD=9.05;ReadPosRankSum=0.563;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,36:136:99:0|1:95859969_A_AT:1211,0,4030:95859969	0	0	10	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	10942.0	176	chr2	95859970	.	G	T	10942.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.161;DP=1219;ExcessHet=22.563;FS=3.703;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.93;MQRankSum=-7.945;QD=9.05;ReadPosRankSum=0.658;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,36:137:99:0|1:95859969_A_AT:1208,0,4060:95859969	0	0	10	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	10894.0	178	chr2	95859975	.	C	T	10894.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.325;DP=1203;ExcessHet=22.563;FS=2.826;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.89;MQRankSum=-7.848;QD=9.12;ReadPosRankSum=0.594;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,37:136:99:0|1:95859969_A_AT:1256,0,3986:95859969	0	0	10	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	9586.04	176	chr2	95859988	.	T	C	9586.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.058;DP=1199;ExcessHet=22.563;FS=2.87;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.82;MQRankSum=-7.568;QD=8.1;ReadPosRankSum=-0.168;SOR=0.973	GT:AD:DP:GQ:PL	0/1:100,34:134:99:1099,0,2449	0	0	10	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	7776.04	171	chr2	95860002	.	T	A	7776.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.667;DP=1147;ExcessHet=22.563;FS=2.169;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.83;MQRankSum=-6.851;QD=6.85;ReadPosRankSum=-0.911;SOR=0.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,30:124:99:0|1:95860002_T_A:973,0,3809:95860002	0	0	10	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	8461.04	165	chr2	95860007	.	A	T	8461.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.586;DP=1122;ExcessHet=22.563;FS=3.022;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.81;MQRankSum=-7.219;QD=7.6;ReadPosRankSum=-1.213;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,28:121:99:0|1:95860002_T_A:896,0,3780:95860002	0	0	10	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	7240.04	151	chr2	95860020	.	G	A	7240.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.1;DP=1028;ExcessHet=22.563;FS=5.221;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.71;MQRankSum=-7.247;QD=7.14;ReadPosRankSum=-1.475;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,23:108:99:0|1:95860020_G_A:710,0,3413:95860020	0	0	10	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	6874.04	150	chr2	95860023	.	A	C	6874.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.07;DP=1000;ExcessHet=22.563;FS=6.519;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.71;MQRankSum=-7.331;QD=6.9;ReadPosRankSum=-1.636;SOR=1.231	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,23:108:99:0|1:95860020_G_A:710,0,3413:95860020	0	0	10	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	.	.	.	.	.	.	.	.	0.45	4291.02	127	chr2	95860046	.	C	A	4291.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.879;DP=789;ExcessHet=15.1594;FS=10.476;InbreedingCoeff=-0.8183;MLEAC=9;MLEAF=0.45;MQ=58.48;MQRankSum=-7.511;QD=5.8;ReadPosRankSum=-0.896;SOR=1.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,16:79:99:.:.:483,0,1800:.	1	0	9	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	6780.01	153	chr2	95927222	.	G	GAT	6780.01	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.39;DP=1300;ExcessHet=22.563;FS=36.882;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.27;MQRankSum=-8.534;QD=5.25;ReadPosRankSum=-4.266;SOR=3.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,22:119:99:0|1:95927222_G_GAT:632,0,4007:95927222	0	0	10	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	10021.0	172	chr2	95927226	.	GTT	G	10021.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.93;DP=1457;ExcessHet=22.563;FS=15.566;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.12;MQRankSum=-9.165;QD=6.89;ReadPosRankSum=-4.116;SOR=2.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,27:127:99:0|1:95927222_G_GAT:833,0,4118:95927222	0	0	10	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	13156.0	192	chr2	95927234	.	T	C	13156.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.459;DP=1595;ExcessHet=22.563;FS=10.628;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=54.9;MQRankSum=-9.948;QD=8.25;ReadPosRankSum=-5.267;SOR=1.435	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,32:135:99:0|1:95927222_G_GAT:1034,0,4229:95927222	0	0	10	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	26684.0	255	chr2	95927252	.	A	G	26684.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.671;DP=2139;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.89;MQRankSum=-12.53;QD=12.48;ReadPosRankSum=-5.1;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,68:194:99:0|1:95927222_G_GAT:2476,0,5086:95927222	0	0	10	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	36703.0	299	chr2	95927268	.	C	A	36703.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-4.947;DP=2541;ExcessHet=22.563;FS=3.353;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.06;MQRankSum=-13.88;QD=14.46;ReadPosRankSum=-4.025;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,96:234:99:0|1:95927222_G_GAT:3586,0,5502:95927222	0	0	10	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	37021.0	320	chr2	95927277	.	C	T	37021.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-5.131;DP=2686;ExcessHet=22.563;FS=3.336;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.08;MQRankSum=-14.3;QD=14.04;ReadPosRankSum=-1.349;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,96:235:99:0|1:95927222_G_GAT:3583,0,5488:95927222	0	0	10	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	13585.0	206	chr2	95929092	.	T	C	13585.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.99;DP=1657;ExcessHet=22.563;FS=12.134;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=48.26;MQRankSum=-8.366;QD=8.24;ReadPosRankSum=-2.829;SOR=1.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,46:174:99:0|1:95929092_T_C:1485,0,5151:95929092	0	0	10	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	16538.0	236	chr2	95929110	.	A	G	16538.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=8.4;DP=1892;ExcessHet=22.563;FS=17.499;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=46.47;MQRankSum=-8.35;QD=8.75;ReadPosRankSum=-1.353;SOR=1.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,55:213:99:0|1:95929092_T_C:1834,0,6449:95929092	0	0	10	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	23460.0	271	chr2	95929126	.	C	A	23460.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=4.32;DP=2223;ExcessHet=22.563;FS=26.443;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.92;MQRankSum=-9.139;QD=10.56;ReadPosRankSum=-1.058;SOR=2.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,79:252:99:0|1:95929092_T_C:2796,0,7026:95929092	0	0	10	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	24873.0	281	chr2	95929130	.	G	C	24873.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=6.79;DP=2277;ExcessHet=22.563;FS=24.162;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.53;MQRankSum=-8.928;QD=10.93;ReadPosRankSum=-1.036;SOR=2.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,84:261:99:0|1:95929092_T_C:2994,0,7179:95929092	0	0	10	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	26298.0	285	chr2	95929135	.	C	T	26298.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=6.09;DP=2381;ExcessHet=22.563;FS=26.117;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=43.98;MQRankSum=-8.81;QD=11.3;ReadPosRankSum=-1.019;SOR=2.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,86:264:99:0|1:95929092_T_C:3043,0,7154:95929092	0	0	10	0
chr2	97090187	97090187	C	A	exonic	FAHD2B	.	nonsynonymous SNV	FAHD2B:NM_001320849:exon3:c.G384T:p.K128N,FAHD2B:NM_199336:exon3:c.G384T:p.K128N,FAHD2B:NM_001320848:exon4:c.G384T:p.K128N	.	436	1079	6	1	0	8	0.00369344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.449	0.099301621511	0.0015	0.000599042	0.0027	0.0008	0.0069	0	0.0016	0.0036	0.0056	0.0006	0.0003842	10	26028	rs146938838	0.0015	0.0015	0.0016	0.0015	0.0028	0.0015	0.0015	0.0017	0.0017	0.0003	0.0018	3.83e-05	0	0.0007	0.0028	0.0018	0.0016	0.0002	0.0010	0.0010	0.0011	0.0010	0.0017	0.0009	0.0008	0.0014	0.0013	0.0004	0	0.0016	0	0	0.0002	0	0.0017	0.0005	0.0002	0.071	0.35165	T	0.158	0.31629	T	0.728	0.42542	P	0.428	0.45338	B	0.000000	0.84330	D	0.051109	0.997665	0.44080	D	2.095	0.58118	M	-4.09	0.96627	D	-1.6	0.38540	N	0.177	0.24758	0.386	0.88881	D	0.809	0.93554	D	10	0.014924526	0.00313	T	0.099302	0.77085	D	0.449	0.75004	0.397	0.42426	0.9651967404	0.96482	0.27537518976829767	0.27450	2.33326140951	0.96682	0.533275067806	0.43496	T	0.392315	0.75202	T	-0.320985	0.06818	T	-0.258477	0.48977	T	0.0435211627124166	0.04333	T	0.966803	0.87909	D	0.13225895	0.30801	0.10725279	0.25816	0.13225895	0.30801	0.10725279	0.25815	-6.012	0.46381	T	.	.	0.251	0.50035	B	.;.	.;.	2.275995	0.29096	18.01	0.99564237938818934	0.71953	0.10642	0.16091	N	AEFI	0.077529	0.15623	N	-0.114448593655584	0.36763	2.129437	-0.224901829856231	0.30647	1.727342	2.65774279415038E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.596	0.596	0.16678	-0.079000	0.11321	1.708000	0.28176	0.172000	0.17770	0.946000	0.32893	1.000000	0.68203	0.484000	0.28656	0.0:0.6407:0.0:0.3593	2.993	0.05624	212	0.91760	Fumarylacetoacetase-like, C-terminal;Fumarylacetoacetase-like, 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	0.001904	0.000000	0.002755	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	1274.12	34	chr2	97090187	.	C	A	1274.12	.	AC=2;AF=0.1;AN=20;DP=350;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=39.65;QD=33.53;SOR=2.554	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1297,114,0	9	1	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2008.94	160	chr2	97185336	.	GC	G	2008.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.691;DP=1002;ExcessHet=10.3881;FS=1.877;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=47.13;MQRankSum=-4.821;QD=2.23;ReadPosRankSum=0.714;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,12:50:99:0|1:97185336_GC_G:389,0,1559:97185336	2	0	8	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	.	.	.	.	.	.	.	.	0.4	2007.98	167	chr2	97185340	.	C	G	2007.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.465;DP=1013;ExcessHet=10.3881;FS=1.853;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=46.82;MQRankSum=-4.808;QD=2.2;ReadPosRankSum=0.876;SOR=0.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,12:51:99:0|1:97185336_GC_G:386,0,1601:97185336	2	0	8	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1983.94	169	chr2	97185341	.	A	AG	1983.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.507;DP=1021;ExcessHet=10.3881;FS=0.867;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=46.66;MQRankSum=-4.689;QD=2.15;ReadPosRankSum=1.2;SOR=0.521	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,12:51:99:0|1:97185336_GC_G:386,0,1601:97185336	2	0	8	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1905.94	179	chr2	97185345	.	GTAAT	G	1905.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.397;DP=1063;ExcessHet=10.3881;FS=0.865;InbreedingCoeff=-0.6663;MLEAC=8;MLEAF=0.4;MQ=45.93;MQRankSum=-4.495;QD=1.98;ReadPosRankSum=1.87;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,12:51:99:0|1:97185336_GC_G:386,0,1581:97185336	2	0	8	0
chr2	97243982	97243982	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.A4444G:p.K1482E	.	594	783	141	4	0	149	0.0868805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000813122360056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879765967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.647	0.06812	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.27	0.17431	T	-1.46	0.35792	N	0.191	0.20925	-1.0431	0.16383	T	0.055	0.23375	T	9	0.088907	0.15351	T	8.13E-4	0.00649	T	0.034	0.08419	.	.	0.0482279557977	0.04254	.	.	.	.	0.827668607235	0.86205	D	0.021647	0.16823	T	-0.288376	0.09799	T	-0.652008	0.08814	T	0.0863367564439753	0.10777	T	0.369363	0.08678	T	0.08514416	0.19738	0.10756626	0.25897	0.08514416	0.19737	0.10756626	0.25896	.	.	.	.	.	0.159	0.35183	B	.;.	.;.	0.562033	0.09308	6.087	0.3763639411248757	0.02492	0.01858	0.05739	N	AEFI	0.031364	0.03344	N	-1.15756630415575	0.05656	0.2584313	-1.32943360964929	0.04054	0.1904441	1.15881377853183E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	0.142	0.14111	0.033000	0.13642	-8.971000	0.00886	-0.471000	0.05090	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.8106:0.0:0.1894:0.0	4.893	0.13094	198	0.92335	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	220.23	35	chr2	97243982	.	A	G	220.23	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.51;DP=686;ExcessHet=0.7463;FS=18.92;InbreedingCoeff=-0.1965;MLEAC=3;MLEAF=0.15;MQ=39.09;MQRankSum=-2.496;QD=0.65;ReadPosRankSum=0.467;SOR=1.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,5:59:47:0|1:97243981_C_T:47,0,2232:97243981	7	0	3	0
chr2	97243989	97243989	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4451T:p.A1484V	.	603	769	146	4	0	154	0.0910165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00106584311882	.	.	4.541e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs879638068	2.069e-06	1.163e-05	2.744e-06	1.387e-06	3.54e-05	5.5e-07	1.5e-07	9.4e-06	4.61e-06	0	0	0	0	0	0	0	0	3.54e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.19430	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.35	0.16217	T	1.55	0.00694	N	0.16	0.16725	-1.0012	0.29574	T	0.013	0.05129	T	9	0.043822676	0.03272	T	0.001066	0.01215	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.738302230835	0.72722	T	0.006193	0.05627	T	-0.286201	0.10021	T	-0.648885	0.09033	T	0.0436484596629869	0.04357	T	0.352565	0.07917	T	0.018949645	0.00419	0.03829343	0.03666	0.018949645	0.00418	0.03829343	0.03665	.	.	.	.	.	0.116	0.23255	B	.;.	.;.	0.661907	0.10304	7.035	0.93505387120157391	0.23315	0.00023	0.00238	N	AEFI	0.010700	0.00081	N	-1.46380150830159	0.02111	0.09285368	-1.52457588063721	0.02156	0.09874057	1.16333637191878E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	-0.226	0.12460	0.981000	0.29124	-0.502000	0.08796	-1.926000	0.00503	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.1981:0.0:0.8019	4.757	0.12464	198	0.92335	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	400.57	35	chr2	97243989	.	C	T	400.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.099;DP=774;ExcessHet=1.5895;FS=29.789;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=38.65;MQRankSum=-2.483;QD=1.01;ReadPosRankSum=0.724;SOR=1.4	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,6:52:99:0|1:97243981_C_T:113,0,1913:97243981	6	0	4	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	0.5	22311.0	211	chr2	97513220	.	G	A	22311.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.053;DP=1505;ExcessHet=22.563;FS=2.574;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.14;MQRankSum=-3.622;QD=14.84;ReadPosRankSum=0.342;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,81:200:99:0|1:97513219_T_C:3043,0,4712:97513219	0	0	10	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	0.5	23638.0	227	chr2	97513227	.	T	C	23638.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.435;DP=1607;ExcessHet=22.563;FS=2.554;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.25;MQRankSum=-3.798;QD=14.94;ReadPosRankSum=0.612;SOR=0.875	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,85:210:99:0|1:97513219_T_C:3193,0,4985:97513219	0	0	10	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	.	.	.	.	.	.	.	.	0.5	29141.0	257	chr2	97513244	.	G	T	29141.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.874;DP=1818;ExcessHet=22.563;FS=1.121;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.81;MQRankSum=-4.032;QD=16.06;ReadPosRankSum=0.265;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,103:237:99:0|1:97513244_G_T:3919,0,5218:97513244	0	0	10	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	0.5	31529.0	274	chr2	97513253	.	A	G	31529.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.011;DP=1915;ExcessHet=22.563;FS=2.477;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.97;MQRankSum=-4.256;QD=16.66;ReadPosRankSum=-0.44;SOR=0.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,112:243:99:0|1:97513244_G_T:4266,0,5143:97513244	0	0	10	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	0.5	31538.0	273	chr2	97513254	.	C	T	31538.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.403;DP=1919;ExcessHet=22.563;FS=2.477;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.97;MQRankSum=-4.256;QD=16.69;ReadPosRankSum=-0.7;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,112:243:99:0|1:97513244_G_T:4266,0,5143:97513244	0	0	10	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	0.5	34648.0	295	chr2	97513268	.	C	T	34648.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.562;DP=2031;ExcessHet=22.563;FS=1.756;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.45;MQRankSum=-4.865;QD=17.14;ReadPosRankSum=-0.434;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,118:256:99:0|1:97513268_C_T:4539,0,5439:97513268	0	0	10	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	0.5	32483.0	301	chr2	97513270	.	A	C	32483.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.141;DP=2044;ExcessHet=22.563;FS=1.745;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.51;MQRankSum=-4.865;QD=15.9;ReadPosRankSum=-0.382;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,120:258:99:0|1:97513268_C_T:4588,0,5433:97513268	0	0	10	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	0.5	34968.0	304	chr2	97513271	.	T	C	34968.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.323;DP=2052;ExcessHet=22.563;FS=1.108;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.54;MQRankSum=-4.877;QD=17.04;ReadPosRankSum=-0.39;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,121:259:99:0|1:97513268_C_T:4610,0,5430:97513268	0	0	10	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	0.5	34754.0	295	chr2	97513281	.	C	T	34754.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.105;DP=2075;ExcessHet=22.563;FS=1.744;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.89;MQRankSum=-5.07;QD=16.85;ReadPosRankSum=-0.404;SOR=0.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,122:261:99:0|1:97513268_C_T:4584,0,5408:97513268	0	0	10	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	8228.04	185	chr2	97513354	.	T	C	8228.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.32;DP=1254;ExcessHet=22.563;FS=1.23;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=40.12;MQRankSum=-3.558;QD=6.78;ReadPosRankSum=0.474;SOR=0.601	GT:AD:DP:GQ:PL	0/1:97,50:147:99:1011,0,2364	0	0	10	0
chr2	98822475	98822475	G	A	exonic	CRACDL	.	nonsynonymous SNV	CRACDL:NM_207362:exon7:c.C1798T:p.L600F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.400872834605	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1374661973	5.301e-06	9.577e-06	1.492e-06	9.225e-06	6.653e-06	2.2e-06	1.42e-06	2.77e-06	1.78e-06	0	0	0	0	0	0	6.653e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.093	0.39799	T	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	1.905	0.50856	L	-0.37	0.68892	T	-2.33	0.51646	N	0.282	0.31925	-0.6681	0.61914	T	0.395	0.74793	T	9	0.34634548	0.51591	T	0.400873	0.93394	D	0.148	0.39182	0.323	0.30387	0.110078149338	0.10416	0.22311606946693674	0.22226	.	.	0.779143095016	0.78798	T	0.096086	0.39753	T	-0.102936	0.35937	T	-0.385637	0.35063	T	0.678432280809179	0.39717	D	0.527047	0.17380	T	0.17929317	0.38993	0.22007175	0.46769	0.17929317	0.38993	0.22007175	0.46768	-5.478	0.41662	T	.	.	0.109	0.20819	B	.	.	3.860151	0.55978	23.7	0.96977762913513665	0.31847	0.22598	0.21800	N	AEFDBHCI	0.045667	0.07495	N	0.00674706602931592	0.42161	2.535173	-0.157641631581794	0.33115	1.890945	0.999999995848935	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.606814	0.37721	0	0.621717	0.48901	0	.	.	4.67	3.78	0.42629	0.670000	0.24838	5.441000	0.48620	0.560000	0.28382	0.979000	0.35152	1.000000	0.68203	0.032000	0.13371	0.1052:0.0:0.8948:0.0	9.357	0.37336	561	0.71236	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	721.43	34	chr2	98822475	.	G	A	721.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=348;ExcessHet=0;FS=1.07;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-1.53;SOR=0.906	GT:AD:DP:GQ:PL	0/1:24,27:51:99:733,0,554	9	0	1	0
chr2	102235010	102235010	G	A	exonic	IL1RL2	.	nonsynonymous SNV	IL1RL2:NM_001351448:exon8:c.G985A:p.A329T,IL1RL2:NM_001351447:exon9:c.G1057A:p.A353T,IL1RL2:NM_001351449:exon10:c.G958A:p.A320T,IL1RL2:NM_001351450:exon10:c.G958A:p.A320T,IL1RL2:NM_001351446:exon11:c.G1411A:p.A471T,IL1RL2:NM_003854:exon11:c.G1411A:p.A471T	.	435	1020	65	2	0	69	0.0327169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	.	0.0036	0.028754	0.0169	0.0013	0.0072	0.0765	0.0009	0.0045	0.0176	0.0584	0.015679	2424	154602	rs75091099	0.0098	0.0098	0.0082	0.0114	0.0652	0.0097	0.0096	0.0631	0.0622	0.0012	0.0067	0.0070	0.0652	0.0007	0.0290	0.0049	0.0116	0.0564	0.0083	0.0083	0.0072	0.0095	0.0707	0.0079	0.0078	0.0647	0.0624	0.0012	0	0.0078	0.0075	0.0707	0.0008	0.0170	0.0057	0.0090	0.0589	0.064	0.44694	T	0.05	0.48855	T	0.964	0.55854	D	0.595	0.50587	P	0.048647	0.23232	N	0.467616	0.57825	0.31234	N	1.39	0.34934	L	2.75	0.11622	T	-2.78	0.59226	D	0.074	0.04790	-1.0976	0.04394	T	0.004	0.01435	T	10	0.0024054945	0.00036	T	.	.	.	0.107	0.30369	.	.	.	.	0.4263791408708797	0.42554	0.220987285755	0.24648	0.283961176872	0.08051	T	0.275429	0.64797	T	-0.632716	0.00092	T	-0.625743	0.10740	T	0.0200631921484089	0.00707	T	0.762324	0.44094	T	0.12541069	0.29400	0.2107837	0.45480	0.12541069	0.29400	0.2107837	0.45479	-9.969	0.76438	D	.	.	0.130	0.34514	B	.;.	.;.	2.545631	0.32935	19.19	0.9987192860215679	0.94989	0.66926	0.33249	D	AEFDBHCI	0.163854	0.29018	N	0.145910387066087	0.48618	3.071912	0.0593109593633821	0.42523	2.573534	0.999999324635554	0.74766	0.55562	0.30534	0	0.61073	0.52368	0	0.615948	0.41167	0	0.665031	0.64506	0	.	.	5.43	3.4	0.38031	3.280000	0.51382	3.752000	0.39687	0.618000	0.50648	0.838000	0.30254	1.000000	0.68203	0.301000	0.24523	0.1128:0.0:0.8872:0.0	12.428	0.54891	818	0.41518	Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) 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	0.010101	0.021739	0.049708	0.000000	0.025862	0.012195	0.049242	0.1	3886.14	36	chr2	102235010	.	G	A	3886.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.24;DP=586;ExcessHet=0.2348;FS=2.555;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=1.35;SOR=0.854	GT:AD:DP:GQ:PL	0/1:73,77:150:99:1999,0,1617	8	0	2	0
chr2	106436730	106436730	C	A	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon10:c.G1401T:p.Q467H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.0265775767669	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1446210458	3.016e-05	4.585e-05	2.366e-05	3.676e-05	0.0004	2.272e-05	2.019e-05	0.0003	0.0002	3.151e-05	2.442e-05	0	5.394e-05	0	0.0002	7.313e-06	0	0.0004	3.714e-05	3.969e-05	4.256e-05	3.118e-05	6.337e-05	1.386e-05	8.89e-06	2.078e-05	1.296e-05	2.761e-05	0	0	0	0	0	0	6.337e-05	0	0	0.551	0.06564	T	0.15	0.32783	T	0.989	0.62824	D	0.79	0.57710	P	.	.	.	.	0.846036	0.28564	N	2.14	0.59869	M	-1.7	0.83072	D	-2.01	0.46337	N	0.313	0.35301	-0.2990	0.75012	T	0.537	0.82897	D	9	0.18078062	0.33279	T	0.026578	0.49475	D	0.303	0.62400	0.171	0.07655	0.373537453441	0.36961	0.065556183300511	0.06494	.	.	0.763197422028	0.76406	T	0.007325	0.06742	T	0.00586486	0.52460	T	-0.229352	0.51834	T	0.167602688074112	0.18416	T	0.762324	0.38756	T	0.06965248	0.15277	0.091925494	0.21638	0.06965248	0.15277	0.091925494	0.21637	-4.466	0.30441	T	.	.	0.556	0.68900	A	.;.	.;.	3.276614	0.44877	22.0	0.93014183188319655	0.22609	0.81349	0.40771	D	AEFI	0.343041	0.43899	N	0.172109784434987	0.49862	3.182083	0.0681964511308243	0.42960	2.607819	9.26350654834107E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.52	1.61	0.22752	1.687000	0.37298	1.771000	0.28634	0.288000	0.18739	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.8418:0.0:0.1582	6.949	0.23712	904	0.23766	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	396.43	33	chr2	106436730	.	C	A	396.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.19;DP=256;ExcessHet=0;FS=0;InbreedingCoeff=-0.0528;MLEAC=1;MLEAF=0.05;MQ=25.81;MQRankSum=-4.212;QD=10.16;ReadPosRankSum=-0.38;SOR=1.179	GT:AD:DP:GQ:PL	0/1:20,19:39:99:408,0,454	9	0	1	0
chr2	106490937	106490937	T	C	exonic	CD8B2	.	nonsynonymous SNV	CD8B2:NM_001349727:exon2:c.T107C:p.M36T,CD8B2:NM_001368307:exon2:c.T107C:p.M36T	.	424	1088	10	0	0	10	0.00457457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	.	.	.	.	.	.	.	.	0.0001164	18	154602	rs533493720	0.0015	0.0015	0.0014	0.0015	0.0043	0.0014	0.0014	0.0030	0.0026	0.0011	0.0013	0.0002	2.519e-05	1.873e-05	0.0043	0.0015	0.0013	0.0025	0.0010	0.0010	0.0011	0.0010	0.0017	0.0009	0.0009	0.0012	0.0011	0.0008	0	0.0008	0.0003	0	0	0.0034	0.0014	0.0028	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011199117	0.00246	T	.	.	.	.	.	.	.	.	.	0.099388158447209	0.09869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460054	0.13307	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15609	B	.;.	.;.	-3.164717	0.00007	0.001	0.60973766807697649	0.06594	0.00135	0.00831	N	AEFGI	.	.	.	.	.	.	.	.	.	3.1793448261721E-5	0.03775	0.080785	0.02172	0	0.085267	0.02369	0	0.121075	0.03231	0	0.050693	0.00103	0	0.0579845	0.13864	3.44	-3.97	0.03821	-7.065000	0.00057	-14.449000	0.00403	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.1754:0.5598:0.0:0.2648	4.137	0.09642	843	0.36859	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	921.43	37	chr2	106490937	.	T	C	921.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.86;DP=398;ExcessHet=0;FS=6.044;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.85;MQRankSum=-0.242;QD=10.71;ReadPosRankSum=0.654;SOR=1.377	GT:AD:DP:GQ:PL	0/1:49,37:86:99:933,0,1222	9	0	1	0
chr2	108882743	108882743	T	C	exonic	CCDC138	.	nonsynonymous SNV	CCDC138:NM_001351557:exon12:c.T1634C:p.I545T	.	1020	499	2	1	0	4	0.00399202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0	0	.	.	.	0	.	.	7.68e-05	2	26028	rs570780976	0	5.725e-05	0	0	.	0	0	.	.	0	.	0	.	.	0	0	0	.	0.0002	0.0002	6.425e-05	0.0003	0.0039	0.0001	9.235e-05	0.0026	0.0021	7.22e-05	0	0	0	0	0	0.0034	1.47e-05	0	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01905927	0.00421	T	.	.	.	.	.	.	.	0.719940562515	0.71747	.	.	.	.	.	.	.	.	.	.	-0.4641	0.00926	T	-0.904424	0.00472	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.478	0.63585	A	.	.	0.916392	0.12909	9.420	0.77373318850385553	0.11849	0.00770	0.03176	N	AEFDBI	0.025305	0.01711	N	.	.	.	.	.	.	0.680465746585641	0.22473	0.092769	0.02424	0	0.084543	0.02171	0	0.121787	0.03316	0	0.101684	0.03063	0	.	.	1.65	1.65	0.23015	0.002000	0.12962	0.960000	0.22984	0.497000	0.22564	0.000000	0.06391	0.002000	0.18203	0.157000	0.20547	0.0:0.0:0.0:1.0	5.396	0.15569	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	.	.	.	.	.	.	.	.	0.05	1409.43	35	chr2	108882743	.	T	C	1409.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-1.751;SOR=0.723	GT:AD:DP:GQ:PL	0/1:77,57:134:99:1421,0,1915	9	0	1	0
chr2	112738876	112738876	G	A	exonic	CKAP2L	.	nonsynonymous SNV	CKAP2L:NM_001304361:exon9:c.C1690T:p.R564C,CKAP2L:NM_152515:exon9:c.C2185T:p.R729C	Filippi syndrome, Autosomal recessive	439	1042	40	1	0	42	0.0197554	.	.	.	696976	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.199	.	0.0082	0.00479233	0.0097	0.0021	0.0058	0	0.0057	0.0112	0.0077	0.0182	0.0093142	1440	154602	rs76036957	0.0098	0.0098	0.0093	0.0102	0.0181	0.0096	0.0096	0.0174	0.0171	0.0013	0.0068	0.0059	2.519e-05	0.0057	0.0099	0.0102	0.0086	0.0181	0.0078	0.0078	0.0079	0.0077	0.0141	0.0074	0.0073	0.0114	0.0104	0.0021	0.0493	0.0090	0.0095	0.0002	0.0038	0.0102	0.0112	0.0071	0.0141	0.0	0.91255	D	0.031	0.53788	D	0.966	0.56202	D	0.378	0.43788	B	0.001663	0.38326	N	0.247068	0.999705	0.81001	D	2.445	0.70938	M	1.34	0.34841	T	-4.35	0.76900	D	0.235	0.26475	-0.9756	0.35993	T	0.075	0.30086	T	10	0.006101191	0.00137	T	.	.	.	0.199	0.48268	.	.	0.220303561663	0.21668	0.6024839971628364	0.60179	0.33601122807	0.35606	0.41950160265	0.27768	T	0.055558	0.30039	T	-0.387086	0.02809	T	-0.314518	0.43171	T	0.0509182101076658	0.05661	T	0.851715	0.53598	D	0.38217694	0.59474	0.25210404	0.50833	0.3203046	0.54665	0.25210404	0.50832	-7.852	0.60057	D	0.6133946603070386	0.68116	0.191	0.40921	B	.	.	3.119182	0.42106	21.5	0.99421121823061132	0.63790	0.77125	0.37887	D	AEFBI	0.258980	0.37742	N	0.328897022263505	0.57636	3.931799	0.364932610761628	0.59413	4.119	0.992322588929736	0.32799	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.45	4.57	0.55860	2.049000	0.40912	4.964000	0.46359	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0827:0.1531:0.7642:0.0	8.592	0.32856	614	0.66605	Cytoskeleton-associated protein 2, 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	1	0	0	0	0	1	0	0.008056	0.005051	0.010870	0.002924	0.000000	0.000000	0.015244	0.015152	0.05	911.43	34	chr2	112738876	.	G	A	911.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.846;DP=405;ExcessHet=0;FS=0.787;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=0.38;SOR=0.545	GT:AD:DP:GQ:PL	0/1:54,42:96:99:923,0,1268	9	0	1	0
chr2	130192015	130192015	C	T	exonic	TUBA3E	.	nonsynonymous SNV	TUBA3E:NM_207312:exon5:c.G1169A:p.R390H	.	0	1513	9	0	0	9	0.0029654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.657	0.0520355668385	0.0012	0.00119808	0.0015	0.0007	0.0008	0	0.0011	0.0021	0.0022	0.0008	0.0012872	199	154602	rs142673044	0.0019	0.0019	0.0019	0.0019	0.0078	0.0018	0.0018	0.0060	0.0054	0.0005	0.0007	0.0037	0	0.0013	0.0078	0.0021	0.0020	0.0008	0.0011	0.0011	0.0013	0.0009	0.0018	0.0010	0.0010	0.0016	0.0015	0.0005	0	0.0001	0.0043	0.0004	0.0005	0	0.0018	0.0009	0.0006	.	.	.	0.108	0.37589	T	0.127	0.26966	B	0.118	0.32088	B	0.000132	0.49741	U	0.000000	0.999632	0.47961	D	2.915	0.84231	M	-1.75	0.83495	D	-3.42	0.67241	D	0.743	0.74280	0.187	0.85684	D	0.563	0.84114	D	10	0.047296613	0.04028	T	0.052036	0.64907	D	0.657	0.87135	.	.	0.89226095772	0.89119	0.4417820980022278	0.44095	.	.	0.584975838661	0.50787	T	0.635924	0.88775	D	-0.0973624	0.36862	T	0.0801055	0.75585	D	0.139245137572289	0.16209	T	0.876412	0.58869	D	0.7777611	0.82516	0.45426646	0.68266	0.7777611	0.82518	0.45426646	0.68267	-10.58	0.77305	D	.	.	0.098	0.16231	B	.	.	3.377084	0.46690	22.3	0.98954512059514055	0.49208	0.75489	0.36963	D	AEFGBCI	0.773566	0.70754	D	0.0694160194340757	0.45039	2.767328	0.0842266236580134	0.43755	2.670763	0.997762595797099	0.36002	0.009731	0.00075	3	0.514364	0.08380	0	0.514364	0.09456	0	0.714379	0.83352	0	.	.	2.96	2.96	0.33383	4.422000	0.59604	.	.	0.505000	0.23025	1.000000	0.71638	0.000000	0.08366	0.040000	0.14268	0.0:1.0:0.0:0.0	11.691	0.50780	982	0.03397	Tubulin/FtsZ, 2-layer sandwich domain|Tubulin/FtsZ, 2-layer sandwich 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	0.002643	0.005051	0.000000	0.004098	0.000000	0.000000	0.006098	0.000000	0.05	1021.43	37	chr2	130192015	.	C	T	1021.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.59;DP=498;ExcessHet=0;FS=1.447;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.98;MQRankSum=-10.59;QD=7.14;ReadPosRankSum=-0.407;SOR=0.898	GT:AD:DP:GQ:PL	0/1:98,45:143:99:1033,0,2427	9	0	1	0
chr2	130509040	130509040	A	G	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon1:c.T196C:p.C66R,POTEI:NM_001371926:exon2:c.T196C:p.C66R	.	438	1014	22	0	48	70	0.0107317	.	.	.	3886675	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.078	.	.	0.00798722	0.0003	0.0004	0	0	0	0.0006	0	0.0001	0.0015368	40	26028	rs28624496	0.0004	0.0039	0.0004	0.0004	0.0014	0.0004	0.0004	0.0006	0.0005	9.494e-05	0.0004	0.0016	0.0002	0	0.0014	0.0004	0.0008	0.0002	0.0003	0.0083	0.0002	0.0003	0.0009	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0002	0	0	0.0001	0	0.0004	0	0.0009	1.0	0.00964	T	0.895	0.03863	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.11	0.08516	N	-0.97	0.75670	T	-0.07	0.08033	N	0.04	0.03175	-0.8817	0.49625	T	0.180	0.52613	T	6	0.005124539	0.00111	T	.	.	.	0.078	0.22779	.	.	0.188950314367	0.18478	0.0529668963886371	0.05238	.	.	0.501408100128	0.39024	T	0.011428	0.10197	T	-0.42832	0.01517	T	-0.61636	0.11473	T	0.0247650453648866	0.01242	T	0.30147	0.06003	T	0.08477733	0.19637	0.17651471	0.40191	0.08477733	0.19636	0.17651471	0.40190	-6.193	0.47866	T	.	.	0.348	0.56462	A	.;.;.	.;.;.	-0.512607	0.01826	0.145	0.10100012595628233	0.00119	0.00006	0.00120	N	AEFI	0.011642	0.00107	N	-1.8558285140909	0.00423	0.01816932	-2.06035745378489	0.00227	0.01001295	2.42689208294814E-4	0.06141	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.109	-0.218	0.12495	-1.799000	0.01842	.	.	-2.355000	0.00307	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	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	1	0	.	.	.	.	.	.	.	.	0.1	308.14	41	chr2	130509040	.	A	G	308.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.54;DP=1296;ExcessHet=0.2348;FS=13.374;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=55.31;MQRankSum=-9.023;QD=0.48;ReadPosRankSum=-5.645;SOR=2.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:305,28:333:99:0|1:130509011_A_G:225,0,11211:130509011	8	0	2	0
chr2	131479412	131479412	G	A	exonic	TUBA3D	.	nonsynonymous SNV	TUBA3D:NM_080386:exon3:c.G331A:p.G111S	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	0.0233730853374	.	0.000199681	3.295e-05	0	0	0	0	4.495e-05	0	6.057e-05	3.84e-05	1	26028	rs550660894	2.257e-05	2.394e-05	1.633e-05	2.888e-05	2.338e-05	1.61e-05	1.416e-05	1.627e-05	1.382e-05	0	0	0	0	3.744e-05	0	2.338e-05	6.623e-05	1.159e-05	1.314e-05	1.312e-05	1.285e-05	1.343e-05	6.54e-05	2.18e-06	8.2e-07	.	.	2.408e-05	0	6.54e-05	0	0	0	0	0	0	0	.	.	.	0.039	0.51112	D	.	.	.	.	.	.	0.000258	0.46924	U	0.000000	0.999843	0.49770	D	.	.	.	-0.9	0.74896	T	-3.99	0.73893	D	0.886	0.88466	0.387	0.88906	D	0.640	0.87407	D	10	0.955	0.94899	D	0.023373	0.46327	T	0.724	0.90280	0.905	0.97985	0.724653821087	0.72221	0.822541271996852	0.82211	.	.	0.681787848473	0.64525	T	.	.	.	0.120091	0.66381	D	0.0315807	0.72380	D	0.977794110774994	0.72014	D	.	.	.	0.11752019	0.27703	0.2815484	0.54138	0.11752019	0.27703	0.2815484	0.54137	-13.315	0.90619	D	.	.	0.986	0.92429	P	.	.	4.526877	0.71028	25.6	0.99593836452818041	0.73748	0.84625	0.43709	D	AEFGCIJ	0.794811	0.72241	D	0.602562060059028	0.73336	5.949582	0.405563888440917	0.61912	4.398021	0.999425180633177	0.39630	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	8.542000	0.90453	.	.	0.481000	0.22134	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	10.151	0.41966	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	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000529	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.05	2731.43	39	chr2	131479412	.	G	A	2731.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.923;DP=847;ExcessHet=0;FS=0.978;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.43;MQRankSum=1.83;QD=11.1;ReadPosRankSum=1.61;SOR=0.609	GT:AD:DP:GQ:PL	0/1:131,115:246:99:2743,0,2988	9	0	1	0
chr2	132646184	132646184	A	G	exonic	LYPD1	.	nonsynonymous SNV	LYPD1:NM_001077427:exon3:c.T131C:p.V44A,LYPD1:NM_001321235:exon3:c.T131C:p.V44A,LYPD1:NM_144586:exon3:c.T287C:p.V96A,LYPD1:NM_001321234:exon4:c.T335C:p.V112A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.834	0.201195480046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.99	0.78936	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.125	0.59049	M	-2.17	0.86624	D	-2.97	0.74051	D	0.922	0.92550	0.468	0.90092	D	0.653	0.87904	D	10	0.8475607	0.83925	D	0.201195	0.86751	D	0.834	0.94765	0.482	0.56302	0.878493223263	0.87730	0.7594761862045467	0.75895	1.25994781817	0.82000	0.884913623333	0.94612	D	0.643684	0.89103	D	0.438832	0.91966	D	0.392576	0.91867	D	0.983285248279572	0.75008	D	0.909409	0.67928	D	0.5990098	0.72638	0.61232555	0.77444	0.5990098	0.72639	0.61232555	0.77445	-10.649	0.77699	D	.	.	0.942	0.86098	P	.;.	.;.	5.224863	0.87693	29.3	0.99877413482036659	0.95410	0.97981	0.78612	D	ALL	0.906710	0.85983	D	0.661399810423076	0.77107	6.611734	0.706029577378497	0.82835	7.867065	0.99999999908923	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.459711	0.06710	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	9.067000	0.93375	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.753	0.77765	964	0.07719	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	3044.43	33	chr2	132646184	.	A	G	3044.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.252;DP=446;ExcessHet=0;FS=2.211;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.72;ReadPosRankSum=-0.372;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,77:134:99:0|1:132646184_A_G:3056,0,2098:132646184	9	0	1	0
chr2	132646185	132646185	C	A	exonic	LYPD1	.	nonsynonymous SNV	LYPD1:NM_001077427:exon3:c.G130T:p.V44F,LYPD1:NM_001321235:exon3:c.G130T:p.V44F,LYPD1:NM_144586:exon3:c.G286T:p.V96F,LYPD1:NM_001321234:exon4:c.G334T:p.V112F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.762	0.190683837251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.125	0.59049	M	-2.21	0.86963	D	-3.5	0.82341	D	0.911	0.93135	0.493	0.90455	D	0.673	0.88677	D	10	0.8529622	0.84481	D	0.190684	0.86139	D	0.762	0.91920	0.448	0.50793	0.935691235139	0.93502	0.88621171869313	0.88590	1.3598936142	0.84301	0.863024115562	0.91556	D	0.642109	0.89038	D	0.435298	0.91794	D	0.387499	0.91693	D	0.989488422870636	0.79719	D	0.954105	0.82551	D	0.83959293	0.86579	0.6573595	0.79934	0.83959293	0.86581	0.6573595	0.79935	-14.245	0.93825	D	.	.	0.881	0.81549	P	.;.	.;.	5.389544	0.90296	31	0.99584144269552066	0.73218	0.97598	0.75804	D	ALL	0.920683	0.89303	D	0.683735792856314	0.78567	6.897668	0.728994518895255	0.84581	8.331804	0.999999999999478	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.459711	0.06710	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	7.687000	0.83428	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.571	0.95412	964	0.07719	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	3044.43	33	chr2	132646185	.	C	A	3044.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.235;DP=444;ExcessHet=0;FS=2.211;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.72;ReadPosRankSum=0.027;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,77:134:99:0|1:132646184_A_G:3056,0,2098:132646184	9	0	1	0
chr2	135780370	135780370	G	A	exonic	UBXN4	.	nonsynonymous SNV	UBXN4:NM_014607:exon12:c.G1373A:p.S458N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0077866832734	.	.	.	.	.	.	.	.	.	.	.	.	.	rs140973089	0	6.84e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.398	0.15109	T	0.001	0.07471	B	0.002	0.06944	B	0.000003	0.62929	D	0.136523	0.658432	0.33029	D	1.12	0.28775	L	0.8	0.48769	T	0.16	0.05217	N	0.116	0.10483	-0.9344	0.43485	T	0.099	0.36907	T	10	0.0420624	0.02920	T	0.007787	0.20668	T	0.114	0.32008	0.203	0.11797	0.0675242888579	0.06100	0.5234706901296083	0.52271	0.311653327016	0.33471	0.385933190584	0.23095	T	0.022745	0.17484	T	-0.242719	0.15003	T	-0.586425	0.13976	T	0.258777022361755	0.23262	T	0.530647	0.17608	T	0.06982691	0.15331	0.11067004	0.26687	0.06982691	0.15331	0.11067004	0.26686	-5.406	0.40977	T	.	.	0.069	0.02993	B	.	.	2.314524	0.29634	18.18	0.97382931637954973	0.33681	0.63492	0.32106	D	AEFGBI	0.188325	0.31560	N	-0.275674969499948	0.30090	1.674628	-0.118357321585298	0.34649	1.99556	0.137800564911531	0.17215	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.03	4.15	0.47978	1.335000	0.33444	1.769000	0.28618	0.618000	0.50648	0.987000	0.36337	0.999000	0.35428	0.999000	0.91618	0.2077:0.0:0.7923:0.0	10.279	0.42708	282	0.88846	.	.	.	.	.	.	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	96.14	34	chr2	135780370	.	G	A	96.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.337;DP=409;ExcessHet=0.2348;FS=35.007;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=2.41;SOR=5.242	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,18:64:70:.:.:70,0,925:.	8	0	2	0
chr2	140994107	140994107	T	C	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon16:c.A2532G:p.I844M	.	427	1063	30	2	0	34	0.0157407	.	.	.	697039	LRP1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.195	.	0.0028	0.0117812	0.0063	0.0007	0.0021	0.0001	0	0.0024	0.0077	0.0341	0.0058343	902	154602	rs147402550	0.0049	0.0049	0.0040	0.0059	0.0345	0.0048	0.0048	0.0335	0.0331	0.0007	0.0016	0.0007	0.0001	0.0001	0.0096	0.0033	0.0054	0.0345	0.0028	0.0028	0.0025	0.0031	0.0371	0.0026	0.0025	0.0327	0.0310	0.0007	0	0.0022	0.0009	0.0002	0	0.0034	0.0026	0.0028	0.0371	0.152	0.24468	T	0.011	0.64786	D	0.001	0.07471	B	0.003	0.08700	B	0.847102	0.07035	N	1.087950	0.999963	0.18878	N	0	0.06538	N	-2.83	0.91249	D	1.04	0.01332	N	0.099	0.08088	-0.7360	0.58658	T	0.362	0.72354	T	10	0.0046260953	0.00096	T	.	.	.	0.195	0.47612	.	.	0.182106788282	0.17826	0.11120296238086644	0.11049	0.231434023854	0.25697	0.361388236284	0.19588	T	0.082083	0.36747	T	-0.453682	0.01074	T	-0.399392	0.33455	T	0.00324615327500798	0.00034	T	0.60284	0.22604	T	0.057276886	0.11379	0.057300694	0.10391	0.057276886	0.11378	0.057300694	0.10391	-3.998	0.23774	T	.	.	0.081	0.08272	B	.	.	0.184167	0.05711	2.158	0.96061534495411727	0.28593	0.04186	0.09688	N	AEFI	0.071648	0.14272	N	-1.18149815456394	0.05280	0.2403164	-1.18537793561606	0.06153	0.2952971	0.00345728987212099	0.10124	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.76	-6.16	0.01919	-0.732000	0.05008	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.909000	0.44452	0.1881:0.173:0.4111:0.2277	2.222	0.03731	558	0.71484	.	.	.	.	.	.	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	0.008056	0.005051	0.002717	0.005848	0.000000	0.017241	0.006098	0.026515	0.05	1811.43	47	chr2	140994107	.	T	C	1811.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.62;DP=556;ExcessHet=0;FS=1.854;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=-0.203;SOR=0.877	GT:AD:DP:GQ:PL	0/1:107,80:187:99:1823,0,2591	9	0	1	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	.	.	.	.	.	.	.	.	0.15	411.49	152	chr2	151680729	.	C	T	411.49	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-4.4;DP=854;ExcessHet=0.7463;FS=121.756;InbreedingCoeff=-0.178;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=0.502;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:113,34:147:99:.:.:232,0,2164:.	7	0	3	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L,ERMN:NM_020711:exon3:c.G601C:p.V201L,ERMN:NM_001009959:exon4:c.G640C:p.V214L,ERMN:NM_001304344:exon4:c.G601C:p.V201L,ERMN:NM_001304345:exon4:c.G601C:p.V201L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	547.15	205	chr2	157321525	.	C	G	547.15	.	AC=7;AF=0.389;AN=18;BaseQRankSum=-3.715;DP=1784;ExcessHet=7.0302;FS=288.634;InbreedingCoeff=-0.5861;MLEAC=7;MLEAF=0.389;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=1.55;SOR=12.262	GT:AD:DP:GQ:PL	0/1:120,47:174:99:110,0,2411	2	0	7	1
chr2	168856728	168856728	T	A	exonic	NOSTRIN	.	nonsynonymous SNV	NOSTRIN:NM_001171632:exon11:c.T919A:p.S307T,NOSTRIN:NM_052946:exon11:c.T769A:p.S257T,NOSTRIN:NM_001039724:exon12:c.T1003A:p.S335T,NOSTRIN:NM_001171631:exon17:c.T1174A:p.S392T	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00338892833889	.	.	8.284e-05	0	0	0	0	2.998e-05	0	0.0005	6.47e-05	10	154602	rs773268786	4.036e-05	4.036e-05	2.859e-05	5.225e-05	0.0005	3.179e-05	2.91e-05	0.0003	0.0003	0	0	0	0	0	0.0002	1.529e-05	3.311e-05	0.0005	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.137	0.27080	T	0.182	0.29249	T	0.009	0.17332	B	0.004	0.15521	B	0.000307	0.45977	N	0.226595	0.787797	0.30322	N	2.075	0.57047	M	1.36	0.38397	T	-1.41	0.36787	N	0.227	0.26957	-1.0861	0.06209	T	0.068	0.27743	T	10	0.038913935	0.02343	T	0.003389	0.07603	T	0.060	0.17295	0.091	0.01065	0.35139820857	0.34749	0.20502623203041812	0.20419	0.075919506711	0.08520	0.328623056412	0.14726	T	0.003119	0.02525	T	-0.486268	0.00681	T	-0.608306	0.12122	T	0.0486385860051408	0.05259	T	0.630437	0.25461	T	0.072547145	0.16148	0.09778226	0.23289	0.072547145	0.16147	0.09778226	0.23288	-4.349	0.28858	T	.	.	0.081	0.08081	B	.;.;.;.;.;.	.;.;.;.;.;.	1.899971	0.24129	16.28	0.93401256390363385	0.23160	0.31369	0.24320	N	AEFDGBHCI	0.343862	0.43954	N	-0.55265219273992	0.20400	1.075151	-0.475202250766674	0.22839	1.242527	0.999979396661642	0.50053	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.03	3.66	0.41111	0.910000	0.28193	3.053000	0.36128	0.665000	0.62972	0.018000	0.19461	0.998000	0.33993	0.998000	0.85391	0.1492:0.0:0.1566:0.6943	6.900	0.23458	766	0.49742	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1198.43	37	chr2	168856728	.	T	A	1198.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.193;DP=459;ExcessHet=0;FS=1.361;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=0.065;SOR=0.696	GT:AD:DP:GQ:PL	0/1:79,58:137:99:1210,0,1989	9	0	1	0
chr2	172077799	172077799	A	G	exonic	METAP1D	.	nonsynonymous SNV	METAP1D:NM_001322278:exon7:c.A353G:p.H118R,METAP1D:NM_001322279:exon7:c.A353G:p.H118R,METAP1D:NM_199227:exon7:c.A707G:p.H236R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0107931487526	.	.	8.265e-06	0	0	0	0	0	0	6.114e-05	6.5e-06	1	154602	rs745620172	4.869e-06	6.157e-06	4.159e-06	5.585e-06	1.186e-05	2.03e-06	1.3e-06	1.97e-06	1.3e-06	0	0	0	0	0	0	5.488e-06	0	1.186e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.672	0.04534	T	0.548	0.09489	T	0.0	0.02946	B	0.0	0.01387	B	0.387542	0.13302	N	0.777035	0.999997	0.08975	N	-1.04	0.01097	N	-0.93	0.75215	T	0.24	0.04533	N	0.057	0.02861	-0.9590	0.39368	T	0.092	0.35119	T	10	0.028318495	0.00966	T	0.010793	0.27726	T	0.144	0.38394	.	.	0.202086224978	0.19791	0.5129540816148069	0.51217	0.172204701602	0.19394	0.253429889679	0.04138	T	0.03836	0.24810	T	-0.333755	0.05832	T	-0.614249	0.11642	T	0.00535751362842726	0.00058	T	0.467453	0.13767	T	0.043385457	0.06752	0.053848263	0.09150	0.043385457	0.06751	0.053848263	0.09150	-1.888	0.02785	T	.	.	0.053	0.00259	B	.	.	-0.495454	0.01881	0.154	0.66253408713841033	0.08005	0.06082	0.12055	N	AEFBI	0.039274	0.05682	N	-1.10770757586583	0.06505	0.2996382	-0.962826489889991	0.10627	0.5364134	0.994706336217439	0.33762	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.63	-2.38	0.06243	-0.164000	0.09972	0.075000	0.14313	-0.053000	0.16966	0.002000	0.15269	0.000000	0.08366	0.980000	0.58198	0.3321:0.1034:0.5646:0.0	10.4	0.43409	789	0.46346	Peptidase M24	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	678.43	38	chr2	172077799	.	A	G	678.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.24;DP=378;ExcessHet=0;FS=0.889;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-1.469;SOR=0.826	GT:AD:DP:GQ:PL	0/1:42,30:72:99:690,0,1010	9	0	1	0
chr2	178532588	178532588	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.C76832G:p.T25611R,TTN:NM_133432:exon187:c.C77207G:p.T25736R,TTN:NM_133437:exon187:c.C77408G:p.T25803R,TTN:NM_133378:exon307:c.C96323G:p.T32108R,TTN:NM_001256850:exon308:c.C99104G:p.T33035R,TTN:NM_001267550:exon358:c.C104027G:p.T34676R	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	1519	3	0	0	3	0.000986518	.	.	.	391712	not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.222	0.0143442458094	.	.	8.289e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs761644963	5.473e-06	5.472e-06	4.084e-06	6.876e-06	0.0002	2.35e-06	1.7e-06	2.375e-05	1.258e-05	8.962e-05	0	0	0	0	0.0002	3.598e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	.	.	.	0.966	0.56202	D	0.691	0.53831	P	.	.	.	.	0.997761	0.44171	D	0	0.06538	N	-0.13	0.64818	T	-3.82	0.71997	D	0.367	0.66873	-0.6711	0.61779	T	0.212	0.57281	T	9	0.24972862	0.42289	T	0.014344	0.34391	T	0.222	0.51872	0.154	0.05752	0.589902427684	0.58666	.	.	0.33750089548	0.35739	0.732467412949	0.71867	T	.	.	.	0.0161536	0.53862	T	-0.214573	0.53257	T	0.430230840678981	0.30069	T	0.89721	0.64352	D	.	.	.	.	.	.	.	.	0.296	0.00260	T	.	.	0.386	0.58762	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.571659	0.33327	19.31	0.83679626179484357	0.14859	0.94339	0.60850	D	AEFBCI	.	.	.	0.551497858219011	0.70175	5.462864	0.639675580003946	0.77845	6.758255	0.999999998844679	0.74766	0.581397	0.33459	0	0.519925	0.08708	0	0.565031	0.19037	0	0.711	0.71501	0	.	.	6.08	6.08	0.98982	5.097000	0.64376	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0717:0.0:0.9283:0.0	13.470	0.60731	368	0.84463	.;.;.;.;.;.;.	.	.	.	.	.	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	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2560.43	123	chr2	178532588	.	G	C	2560.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.79;DP=882;ExcessHet=0;FS=1.306;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.96;ReadPosRankSum=0.256;SOR=0.566	GT:AD:DP:GQ:PL	0/1:61,90:151:99:2572,0,1583	9	0	1	0
chr2	178654277	178654277	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001267550:exon193:c.A38311G:p.K12771E	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	10	1506	6	0	0	6	0.00198807	.	.	.	391996	not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided	MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	0.000271377192617	.	0.000199681	0.0002	0.0024	0.0004	0	0	3.211e-05	0	0	0.0001746	27	154602	rs551811137	9.101e-05	9.175e-05	0.0001	7.486e-05	0.0024	7.817e-05	7.357e-05	0.0019	0.0018	0.0024	0.0003	0	0	0	0.0002	1.892e-05	0.0003	0	0.0008	0.0009	0.0009	0.0007	0.0026	0.0007	0.0007	0.0022	0.0020	0.0026	0	0.0011	0	0	0	0	4.449e-05	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.22194	N	.	.	.	-0.33	0.68329	T	.	.	.	0.336	0.37717	.	.	.	.	.	.	.	0.011951089	0.00259	T	2.71E-4	0.00015	T	.	.	.	.	0.677189035597	0.67445	.	.	.	.	.	.	.	.	.	.	-0.540969	0.00331	T	-0.554768	0.16871	T	.	.	.	0.520648	0.16939	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.336907	0.17426	13.16	0.82808172443989581	0.14385	0.01655	0.05310	N	AEFI	0.076139	0.15309	N	.	.	.	.	.	.	0.0038731215975097	0.10318	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.34	-2.06	0.06894	-0.965000	0.03939	.	.	0.319000	0.19345	0.000000	0.06391	0.000000	0.08366	0.844000	0.39860	0.0:0.0:0.6335:0.3665	11.748	0.51097	441	0.80015	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1285.43	36	chr2	178654277	.	T	C	1285.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.322;DP=473;ExcessHet=0;FS=6.22;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=47.8;MQRankSum=0.292;QD=8.8;ReadPosRankSum=-1.332;SOR=1.179	GT:AD:DP:GQ:PL	0/1:88,58:146:99:1297,0,2079	9	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	.	.	.	.	.	.	.	.	0.1875	443.45	47	chr2	186504215	.	G	C	443.45	.	AC=3;AF=0.188;AN=16;BaseQRankSum=1.62;DP=389;ExcessHet=10.4813;FS=166.33;InbreedingCoeff=-0.578;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=1.57;SOR=8.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,9:40:22:0|1:186504214_G_C:22,0,549:186504214	5	0	3	2
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	.	.	.	.	.	.	.	.	0.4286	1527.34	112	chr2	197523648	.	T	C	1527.34	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.265;DP=605;ExcessHet=4.5998;FS=381.692;InbreedingCoeff=-0.601;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.23;ReadPosRankSum=1.14;SOR=10.505	GT:AD:DP:GQ:PL	0/1:47,36:83:99:372,0,700	1	0	6	3
chr2	199819637	199819637	C	T	exonic	FTCDNL1	.	nonsynonymous SNV	FTCDNL1:NM_001350853:exon4:c.G332A:p.R111K,FTCDNL1:NM_001363886:exon4:c.G332A:p.R111K	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00422175786893	.	0.000199681	0.0008	0	0	0	.	0.0011	0	0.0008	6.47e-05	10	154602	rs547561715	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0002	0.0010	0.0009	0	2.881e-05	0.0011	0	0	0.0005	8.207e-05	0.0002	0.0012	6.569e-05	6.563e-05	8.997e-05	4.03e-05	0.0006	3.516e-05	2.615e-05	0.0002	8.996e-05	0	0	0	0.0009	0	0	0	5.883e-05	0	0.0006	1.0	0.00964	T	0.691	0.06469	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.03	0.76430	T	-0.5	0.15782	N	0.097	0.07949	.	.	.	.	.	.	.	0.016528368	0.00349	T	0.004222	0.10184	T	.	.	.	.	0.714162121074	0.71165	0.26982246079407146	0.26895	.	.	.	.	.	0.198652	0.55569	T	-0.418268	0.01755	T	-0.456622	0.26969	T	.	.	.	0.472453	0.14032	T	0.04414074	0.07004	0.11677036	0.28190	0.04414074	0.07003	0.11677036	0.28189	-3.943	0.22948	T	.	.	0.124	0.27252	B	.;.	.;.	0.813820	0.11849	8.416	0.55353456949154833	0.05325	0.04586	0.10236	N	AEFDBI	0.062011	0.11895	N	.	.	.	.	.	.	0.999125784702486	0.38507	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	5.0	3.13	0.35090	0.380000	0.20331	2.085000	0.30516	-0.176000	0.10722	0.275000	0.25094	0.868000	0.27561	0.336000	0.25340	0.0:0.6806:0.0:0.3194	6.242	0.20005	649	0.63102	Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain;Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1030.43	38	chr2	199819637	.	C	T	1030.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=453;ExcessHet=0;FS=1.541;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=0.185;SOR=0.858	GT:AD:DP:GQ:PL	0/1:64,45:109:99:1042,0,1549	9	0	1	0
chr2	202300260	202300260	G	C	exonic	NOP58	.	nonsynonymous SNV	NOP58:NM_015934:exon13:c.G1295C:p.G432A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.00903805236388	.	.	.	.	.	.	.	.	.	.	.	.	.	rs774262804	1.387e-06	1.368e-06	0	2.788e-06	1.226e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.681e-05	1.226e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.000000	0.84330	D	0.046377	1	0.81001	D	1.16	0.29674	L	0.37	0.57729	T	1.66	0.00606	N	0.229	0.25745	-1.0421	0.16681	T	0.085	0.33213	T	10	0.09897745	0.17931	T	0.009038	0.23797	T	0.169	0.43123	0.205	0.12076	0.687329536467	0.68465	0.31149412060831727	0.31062	0.423483163706	0.42806	0.74698060751	0.74001	T	0.010677	0.09617	T	-0.0166128	0.49336	T	-0.146685	0.59536	T	0.371074169874191	0.27839	T	0.858514	0.54939	D	0.2876769	0.51776	0.21819672	0.46513	0.2876769	0.51776	0.21819672	0.46512	-1.574	0.01922	T	.	.	0.101	0.17615	B	.	.	2.110775	0.26865	17.26	0.28233997469821176	0.01440	0.98666	0.85331	D	AEFGBI	0.721705	0.67186	D	-0.215885754915412	0.32481	1.832295	0.0403609731327027	0.41609	2.502617	0.999999812365878	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	4.99	0.65942	5.011000	0.63768	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8617:0.1383	15.552	0.75899	208	0.91895	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	491.43	38	chr2	202300260	.	G	C	491.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=305;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.497;SOR=0.91	GT:AD:DP:GQ:PL	0/1:19,19:38:99:503,0,405	9	0	1	0
chr2	206665968	206665968	C	G	exonic	DYTN	.	nonsynonymous SNV	DYTN:NM_001093730:exon10:c.G1042C:p.E348Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00930373434843	.	.	1.658e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs775532913	2.737e-06	2.736e-06	2.723e-06	2.751e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	1.656e-05	0	6.573e-06	6.567e-06	1.285e-05	0	6.552e-05	0	0	.	.	0	0	6.552e-05	0	0	0	0	0	0	0	0.005	0.63226	D	0.0	0.92824	D	0.987	0.61912	D	0.755	0.56206	P	.	.	.	.	0.990019	0.24225	N	2.045	0.56016	M	2.16	0.19166	T	-0.76	0.21215	N	0.275	0.31140	-1.0835	0.06683	T	0.055	0.23375	T	9	0.2451607	0.41760	T	0.009304	0.24413	T	0.090	0.26093	0.238	0.16912	0.0297737177859	0.01360	0.20812569252810936	0.20728	0.139407092502	0.15712	0.382192134857	0.22567	T	0.001838	0.01251	T	-0.198391	0.21036	T	-0.439886	0.28820	T	0.610861778259277	0.36835	D	0.535646	0.17968	T	0.13867933	0.32064	0.18826479	0.42106	0.13867933	0.32064	0.18826479	0.42105	-3.626	0.18233	T	.	.	0.115	0.23113	B	.	.	2.822021	0.37176	20.4	0.99605245807894094	0.74456	0.74477	0.36435	D	AEFI	0.138949	0.26039	N	0.0433833647759958	0.43838	2.669037	0.0220358919958373	0.40740	2.436196	0.0187803558019218	0.13095	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.88	4.01	0.45821	0.664000	0.24749	0.669000	0.20577	0.599000	0.40250	0.988000	0.36536	0.281000	0.24108	0.076000	0.17014	0.0:0.9004:0.0:0.0996	9.052	0.35545	828	0.39726	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1497.43	33	chr2	206665968	.	C	G	1497.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.66;DP=433;ExcessHet=0;FS=5.439;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=1.53;SOR=1.031	GT:AD:DP:GQ:PL	0/1:64,60:124:99:1509,0,1519	9	0	1	0
chr2	215346801	215346801	A	G	exonic	ATIC	.	nonsynonymous SNV	ATIC:NM_004044:exon14:c.A1363G:p.T455A	AICA-ribosiduria due to ATIC deficiency, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	4079666	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.408	0.0993202629966	.	0.000199681	1.647e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs564455369	6.84e-06	6.84e-06	0	1.375e-05	0.0002	3.46e-06	2.52e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	0	6.623e-05	5.797e-05	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.515	0.11227	T	0.847	0.46818	P	0.717	0.54739	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.44	0.36004	L	-0.95	0.75438	T	-4.51	0.78222	D	0.742	0.74189	0.058	0.83384	D	0.504	0.81295	D	10	0.70511365	0.72688	D	0.09932	0.77088	D	0.730	0.90545	0.617	0.75116	0.862731788419	0.86139	0.8246619562200637	0.82424	0.278678198242	0.30350	0.668923854828	0.62684	T	0.52073	0.83234	D	0.0846159	0.62577	D	0.0864224	0.76006	D	0.722550594435052	0.41828	D	0.962254	0.85785	D	0.8616102	0.88209	0.7676829	0.86279	0.8616102	0.88210	0.7676829	0.86280	-9.795	0.72675	D	0.33568017259933025	0.43360	0.537	0.75325	A	.;.	.;.	4.689135	0.75117	26.3	0.99875866783432909	0.95328	0.99513	0.96930	D	AEFBI	0.943098	0.94849	D	0.727493369856491	0.81434	7.521382	0.746899310568886	0.85926	8.728312	0.99999993384004	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	9.171000	0.93946	11.149000	0.87296	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	1.0:0.0:0.0:0.0	16.560	0.84401	762	0.50290	.;.	.	.	.	.	.	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	0.000000	0.000000	0.05	972.43	34	chr2	215346801	.	A	G	972.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.539;DP=389;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.74;SOR=0.713	GT:AD:DP:GQ:PL	0/1:28,41:69:99:984,0,658	9	0	1	0
chr2	217847726	217847726	T	G	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon16:c.A2416C:p.N806H,TNS1:NM_001308023:exon17:c.A2416C:p.N806H,TNS1:NM_022648:exon17:c.A2416C:p.N806H	.	398	1105	18	1	0	20	0.00896861	.	.	.	697315	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.104	0.0429944531494	0.0012	0.000599042	0.0018	0.0003	0.0012	0	0.0006	0.0020	0.0033	0.0038	0.0017141	265	154602	rs141901890	0.0022	0.0022	0.0021	0.0023	0.0070	0.0022	0.0021	0.0052	0.0047	0.0002	0.0010	0.0008	0	0.0010	0.0070	0.0023	0.0023	0.0042	0.0015	0.0015	0.0015	0.0015	0.0041	0.0013	0.0012	0.0027	0.0023	0.0003	0	0.0007	0.0014	0	0.0010	0	0.0024	0.0005	0.0041	0.217	0.19157	T	0.139	0.33780	T	0.162	0.28404	B	0.121	0.32300	B	0.986698	0.08058	N	0.994171	1	0.08975	N	1.1	0.28011	L	-2.76	0.90904	D	-0.33	0.14390	N	0.238	0.30687	-0.4985	0.68704	T	0.474	0.79784	T	10	0.0075338185	0.00171	T	0.042994	0.60755	D	0.104	0.29647	.	.	0.631036566339	0.62802	0.35266923823291957	0.35180	0.222514327128	0.24783	0.335076749325	0.15699	T	0.045347	0.27096	T	-0.437887	0.01331	T	-0.399437	0.33450	T	0.00503909717186177	0.00054	T	0.737426	0.35417	T	0.05296016	0.09952	0.05846371	0.10808	0.05296016	0.09952	0.05846371	0.10807	-2.723	0.07498	T	.	.	0.069	0.03093	B	.;.;.;.;.;.	.;.;.;.;.;.	2.406268	0.30922	18.58	0.8255103183594763	0.14251	0.75342	0.36884	D	AEFDBCI	0.334560	0.43328	N	-0.71279601441514	0.15661	0.791244	-0.666106537991906	0.17811	0.9486976	0.99997784324916	0.50053	0.653281	0.48532	0	0.59043	0.45803	0	0.602189	0.34648	0	0.669	0.65921	0	.	.	4.11	2.9	0.32809	1.378000	0.33935	3.369000	0.37918	0.665000	0.62972	0.859000	0.30595	0.997000	0.33255	0.580000	0.30894	0.0:0.2965:0.0:0.7035	6.640	0.22096	957	0.09725	.;.;.;.;.;.	.	.	.	.	.	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	0.005539	0.000000	0.005435	0.005848	0.000000	0.000000	0.012195	0.007576	0.05	686.43	33	chr2	217847726	.	T	G	686.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.45;DP=470;ExcessHet=0;FS=3.72;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.917;SOR=1.067	GT:AD:DP:GQ:PL	0/1:32,25:57:99:698,0,811	9	0	1	0
chr2	225513525	225513525	G	A	exonic	NYAP2	.	nonsynonymous SNV	NYAP2:NM_020864:exon3:c.G376A:p.G126S,NYAP2:NM_001371273:exon4:c.G376A:p.G126S	.	428	1066	23	5	0	33	0.0152425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	.	0.0087	0.00559105	0.0070	0.0131	0.0036	0	0.0015	0.0095	0.0068	0.0013	0.0064488	997	154602	rs61752215	0.0066	0.0066	0.0067	0.0065	0.0161	0.0065	0.0064	0.0135	0.0125	0.0105	0.0042	0.0572	2.52e-05	0.0015	0.0161	0.0060	0.0102	0.0011	0.0079	0.0079	0.0083	0.0075	0.0109	0.0075	0.0074	0.0101	0.0098	0.0109	0	0.0044	0.0550	0	0.0016	0.0170	0.0066	0.0067	0.0010	1.0	0.00964	T	0.985	0.02393	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.955	0.23872	L	1.28	0.35960	T	0.06	0.06253	N	0.839	0.83473	-1.0657	0.10386	T	0.098	0.36548	T	10	0.0072583854	0.00165	T	.	.	.	0.271	0.58633	.	.	0.043077524339	0.03247	0.19063985266315145	0.18981	0.340736581271	0.36013	0.712054312229	0.68891	T	0.004777	0.04195	T	-0.423853	0.01617	T	-0.371224	0.36745	T	0.0854194623662757	0.10666	T	0.791221	0.43226	T	0.1879688	0.40274	0.24215227	0.49630	0.1879688	0.40274	0.24215227	0.49628	2.523	0.00032	T	.	.	0.148	0.32804	B	.;.	.;.	3.433565	0.47730	22.5	0.98737237100527531	0.45452	0.93948	0.59658	D	AEFGBHCI	0.931760	0.92107	D	0.355289609203242	0.59019	4.078083	0.363728750906551	0.59340	4.110883	1.0	0.98316	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	9.526000	0.97097	11.744000	0.95258	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	19.434	0.94775	692	0.58729	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, 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	0.020141	0.020202	0.023098	0.038012	0.000000	0.034483	0.009146	0.003788	0.1	9794.14	35	chr2	225513525	.	G	A	9794.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.24;DP=774;ExcessHet=0.2348;FS=2.445;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=20.36;ReadPosRankSum=0.333;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,130:217:99:0|1:225513525_G_A:5197,0,3227:225513525	8	0	2	0
chr2	225513526	225513526	G	A	exonic	NYAP2	.	nonsynonymous SNV	NYAP2:NM_020864:exon3:c.G377A:p.G126D,NYAP2:NM_001371273:exon4:c.G377A:p.G126D	.	426	1068	23	5	0	33	0.0152144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	.	0.0088	0.00539137	0.0070	0.0131	0.0033	0	0.0015	0.0095	0.0068	0.0013	0.0064229	993	154602	rs61753537	0.0066	0.0066	0.0067	0.0065	0.0161	0.0065	0.0064	0.0135	0.0125	0.0106	0.0040	0.0572	2.521e-05	0.0015	0.0161	0.0060	0.0102	0.0011	0.0079	0.0079	0.0082	0.0075	0.0109	0.0075	0.0074	0.0101	0.0098	0.0109	0	0.0042	0.0550	0	0.0016	0.0170	0.0066	0.0066	0.0010	0.152	0.24468	T	0.627	0.07267	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.67	0.78151	M	0.94	0.43672	T	-2.32	0.51478	N	0.91	0.91162	-0.8570	0.51477	T	0.185	0.53376	T	10	0.007973403	0.00181	T	.	.	.	0.303	0.62400	.	.	0.102598925029	0.09809	0.2733870242097265	0.27251	0.672938121939	0.59561	0.790424525738	0.80507	T	0.086051	0.37638	T	-0.3985	0.02369	T	-0.334806	0.40931	T	0.0451339892480626	0.04626	T	0.947205	0.79675	D	0.39915887	0.60674	0.43386617	0.66925	0.39915887	0.60675	0.43386617	0.66925	-6.284	0.48595	T	.	.	0.788	0.76741	P	.;.	.;.	4.722858	0.75993	26.4	0.9982111281595506	0.90414	0.93948	0.59658	D	AEFGBHCI	0.931760	0.92107	D	0.568793636542226	0.71232	5.619923	0.516089587561411	0.69071	5.308454	1.0	0.98316	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	9.526000	0.97097	11.744000	0.95258	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	19.434	0.94775	692	0.58729	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, 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	0.020141	0.020202	0.023098	0.038012	0.000000	0.034483	0.009146	0.003788	0.1	9794.14	35	chr2	225513526	.	G	A	9794.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.1;DP=775;ExcessHet=0.2348;FS=2.445;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=20.36;ReadPosRankSum=0.495;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,130:217:99:0|1:225513525_G_A:5197,0,3227:225513525	8	0	2	0
chr2	227889966	227889966	G	A	exonic	DAW1	.	nonsynonymous SNV	DAW1:NM_178821:exon3:c.G224A:p.G75D,DAW1:NM_001330004:exon4:c.G179A:p.G60D	.	439	1081	2	0	0	2	0.000924214	.	.	.	2193768	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.127	0.0161452553141	0.0002	.	7.445e-05	0	8.66e-05	0	0	9.015e-05	0	0.0001	6.47e-05	10	154602	rs373453236	5.665e-05	6.02e-05	6.048e-05	5.278e-05	0.0026	4.656e-05	4.278e-05	0.0016	0.0013	3.067e-05	0.0002	0	0	1.879e-05	0.0026	4.609e-05	5.016e-05	4.793e-05	5.917e-05	5.911e-05	2.571e-05	9.423e-05	0.0003	3.079e-05	2.211e-05	0.0001	8.295e-05	0	0	0.0003	0	0	0	0	5.88e-05	0	0	0.589	0.05844	T	0.602	0.37449	T	0.145	0.27759	B	0.087	0.29615	B	0.030659	0.25278	N	0.390503	1	0.08975	N	1.91	0.51138	L	0.68	0.51952	T	-1.8	0.42384	N	0.401	0.44187	-0.9830	0.34305	T	0.119	0.41799	T	10	0.047391742	0.04051	T	0.016145	0.37263	T	0.127	0.34888	.	.	0.32980341726	0.32591	0.2645938606580081	0.26372	0.126491588652	0.14259	0.244650751352	0.03225	T	0.003727	0.20786	T	-0.347065	0.04913	T	-0.456876	0.26940	T	0.0470414871765424	0.04973	T	0.848915	0.53946	T	0.07951126	0.18169	0.10159615	0.24327	0.07951126	0.18169	0.10159615	0.24326	-6.037	0.46588	T	.	.	0.122	0.34970	B	.;.	.;.	0.758685	0.11287	7.909	0.76493822851583415	0.11490	0.12034	0.17018	N	AEFBI	0.082440	0.16692	N	-0.642115488044634	0.17691	0.9124524	-0.669115748724112	0.17735	0.9443191	0.792112003872605	0.24033	0.706298	0.61202	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.46	1.29	0.20717	1.251000	0.32465	0.107000	0.14728	0.676000	0.76740	0.002000	0.15269	0.000000	0.08366	0.782000	0.36987	0.0715:0.3785:0.55:0.0	10.392	0.43363	513	0.74941	.;.	.	.	.	.	.	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	0.002014	0.005051	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	990.43	37	chr2	227889966	.	G	A	990.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.01;DP=404;ExcessHet=0;FS=1.724;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.868;SOR=0.527	GT:AD:DP:GQ:PL	0/1:47,42:89:99:1002,0,1132	9	0	1	0
chr2	231037803	231037803	C	A	exonic	C2orf72	.	nonsynonymous SNV	C2orf72:NM_001144994:exon1:c.C238A:p.R80S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0112319189305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.196e-06	2.052e-06	2.223e-06	0	1.31e-06	0	0	.	.	0	0	0	0	0	0	1.31e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.721	0.05327	T	0.09	0.25173	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	.	.	.	-0.44	0.14588	N	0.086	0.06322	-1.0210	0.23389	T	0.038	0.16290	T	8	0.040344536	0.02595	T	0.011232	0.28641	T	0.015	0.02232	0.279	0.23323	0.0297737177859	0.01360	0.2179790604810889	0.21713	.	.	.	.	.	0.00105	0.00580	T	-0.235769	0.15892	T	-0.576443	0.14863	T	0.0791372880339622	0.09875	T	0.323768	0.06600	T	0.07223487	0.16053	0.054446213	0.09365	0.07223487	0.16052	0.054446213	0.09365	-3.905	0.22377	T	.	.	0.182	0.39477	B	.	.	1.002710	0.13811	10.36	0.88469563149121688	0.18001	0.00878	0.03471	N	AEFDBCI	0.033024	0.03841	N	-1.30798860187282	0.03583	0.1603103	-1.43107317089966	0.02946	0.1364914	0.999999981071189	0.74766	0.403107	0.06075	0	0.491552	0.07993	0	0.608004	0.38603	0	0.562822	0.20929	0	.	.	2.54	-5.08	0.02708	-0.070000	0.11483	-2.508000	0.03669	0.412000	0.20661	0.000000	0.06391	0.000000	0.08366	0.164000	0.20782	0.1827:0.3122:0.2927:0.2125	0.840	0.01074	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	.	.	.	.	.	.	.	.	0.05556	30.77	1	chr2	231037803	.	C	A	30.77	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.967;DP=22;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:23:40,0,23	8	0	1	1
chr2	231214830	231214830	G	A	splicing	ARMC9	NM_001271466:exon4:c.178-1G>A;NM_001352757:exon4:c.178-1G>A;NM_001352756:exon4:c.178-1G>A;NM_025139:exon4:c.178-1G>A;NM_001352759:exon4:c.178-1G>A;NM_001352758:exon4:c.178-1G>A;NM_001352755:exon4:c.178-1G>A;NM_001291656:exon4:c.178-1G>A;NM_001352754:exon4:c.178-1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.932	YES	959575	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	8.295e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs781417301	3.421e-06	3.42e-06	4.084e-06	2.751e-06	0.0002	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.598e-06	0	0	1.971e-05	1.97e-05	0	4.036e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427509	0.91406	D	0.376311	0.91300	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.711270	0.93173	33	0.99479123329748409	0.66795	0.97923	0.78155	D	AEFDGBCI	.	.	.	1.27559742842659	0.99955	33.71423	1.14330894470173	0.99948	33.14012	1.0	0.98316	0.163922	0.03765	0	0.156668	0.03792	0	0.137589	0.03823	0	0.117559	0.03655	0	0.989227	0.97985	5.81	5.81	0.92413	9.844000	0.98359	11.497000	0.92950	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	20.064	0.97701	946	0.12043	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	480.43	34	chr2	231214830	.	G	A	480.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.92;DP=363;ExcessHet=0;FS=2.523;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=-0.398;SOR=1.125	GT:AD:DP:GQ:PL	0/1:39,19:58:99:492,0,1002	9	0	1	0
chr2	233551416	233551416	G	A	exonic	USP40	.	nonsynonymous SNV	USP40:NM_001365479:exon7:c.C797T:p.T266I,USP40:NM_001382295:exon7:c.C797T:p.T266I,USP40:NM_001382296:exon7:c.C797T:p.T266I,USP40:NM_001382297:exon7:c.C797T:p.T266I,USP40:NM_001382299:exon7:c.C797T:p.T266I,USP40:NM_001382300:exon7:c.C797T:p.T266I,USP40:NM_001382301:exon7:c.C797T:p.T266I,USP40:NM_018218:exon7:c.C797T:p.T266I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0211454813187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.003	0.76473	D	0.991	0.64070	D	0.931	0.66596	D	0.021598	0.26803	N	0.451624	0.802056	0.34524	D	2.48	0.72069	M	1.48	0.31731	T	-3.2	0.64710	D	0.744	0.74918	-0.4265	0.71180	T	0.233	0.59928	T	10	0.7485858	0.75469	D	0.021145	0.43873	T	0.352	0.67326	0.523	0.62668	0.585382094262	0.58212	0.2674321121739993	0.26656	0.173741090173	0.19561	0.495058357716	0.38140	T	0.013729	0.11817	T	-0.0713418	0.41112	T	-0.340254	0.40316	T	0.942872643470764	0.61749	D	0.89491	0.63503	D	0.13332939	0.31015	0.17038059	0.39143	0.13332939	0.31015	0.17038059	0.39142	-9.721	0.72224	D	.	.	0.142	0.34840	B	.;.;.	.;.;.	3.037286	0.40708	21.2	0.9989187869890449	0.96589	0.89378	0.49806	D	AEFBI	0.321575	0.42433	N	0.601830131885395	0.73291	5.942076	0.506147270835235	0.68402	5.215241	0.999999948911874	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.62	5.62	0.85714	3.659000	0.54227	7.466000	0.59102	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.709000	0.34421	0.0:0.0:1.0:0.0	19.660	0.95860	773	0.48803	.;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	.	.	.	.	.	.	.	.	0.2	239.82	35	chr2	233551416	.	G	A	239.82	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.143;DP=467;ExcessHet=1.5895;FS=202.816;InbreedingCoeff=-0.2375;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=0.482;SOR=8.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:48,17:65:99:.:.:132,0,1018:.	6	0	4	0
chr2	240740088	240740088	G	A	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_001379636:exon35:c.C3568T:p.R1190C,KIF1A:NM_001379637:exon35:c.C3643T:p.R1215C,KIF1A:NM_001379639:exon35:c.C3568T:p.R1190C,KIF1A:NM_001379640:exon35:c.C3565T:p.R1189C,KIF1A:NM_001379641:exon35:c.C3568T:p.R1190C,KIF1A:NM_001379648:exon35:c.C3643T:p.R1215C,KIF1A:NM_001379649:exon35:c.C3568T:p.R1190C,KIF1A:NM_001379650:exon35:c.C3568T:p.R1190C,KIF1A:NM_001379651:exon35:c.C3568T:p.R1190C,KIF1A:NM_001379653:exon35:c.C3568T:p.R1190C,KIF1A:NM_004321:exon35:c.C3568T:p.R1190C,KIF1A:NM_001320705:exon36:c.C3595T:p.R1199C,KIF1A:NM_001330289:exon36:c.C3595T:p.R1199C,KIF1A:NM_001330290:exon36:c.C3670T:p.R1224C,KIF1A:NM_001379632:exon36:c.C3820T:p.R1274C,KIF1A:NM_001379633:exon36:c.C3844T:p.R1282C,KIF1A:NM_001379634:exon36:c.C3670T:p.R1224C,KIF1A:NM_001379635:exon36:c.C3670T:p.R1224C,KIF1A:NM_001379638:exon36:c.C3595T:p.R1199C,KIF1A:NM_001379642:exon36:c.C3844T:p.R1282C,KIF1A:NM_001379645:exon36:c.C3844T:p.R1282C,KIF1A:NM_001379646:exon36:c.C3670T:p.R1224C,KIF1A:NM_001244008:exon37:c.C3871T:p.R1291C,KIF1A:NM_001379631:exon37:c.C3946T:p.R1316C	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	691098	not_specified|not_provided|Neuropathy,_hereditary_sensory,_type_2C|Intellectual_disability,_autosomal_dominant_9|Hereditary_spastic_paraplegia_30|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213,Orphanet:970|MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255,Orphanet:662367|MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357,Orphanet:101010|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.418	0.284465629828	7.9e-05	0.000399361	0.0004	0	0	0.0042	0	9.539e-05	0.0031	0.0003	0.0001617	25	154602	rs199998986	9.601e-05	0.0001	8.968e-05	0.0001	0.0015	8.273e-05	7.781e-05	0.0012	0.0011	9.155e-05	9.642e-05	0	0.0015	1.956e-05	0.0002	4.18e-05	0.0001	0.0002	0.0001	0.0001	6.426e-05	0.0002	0.0019	7.573e-05	6.278e-05	0.0010	0.0008	9.632e-05	0	0.0001	0	0.0019	0	0	1.47e-05	0	0.0002	0.014	0.55530	D	0.049	0.48594	D	0.999	0.77913	D	0.873	0.61978	P	0.000786	0.41772	U	0.188876	0.999877	0.50225	D	1.04	0.26193	L	-0.67	0.73205	T	-4.61	0.79571	D	0.639	0.67477	-0.3224	0.74355	T	0.330	0.69800	T	10	0.027278662	0.00876	T	0.284466	0.90347	D	0.418	0.72780	.	.	0.629592633289	0.62656	0.48745250817772223	0.48665	1.27794266167	0.82456	0.359657585621	0.19336	T	0.62244	0.88185	D	-0.278616	0.10815	T	-0.186219	0.55943	T	0.151289409942196	0.17206	T	0.977402	0.92063	D	0.19197898	0.40848	0.16768439	0.38671	0.19197898	0.40847	0.16768439	0.38670	-6.687	0.51712	T	.	.	0.082	0.23986	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.506354	0.91640	32	0.9992230062637022	0.98852	0.79787	0.39606	D	AEFDBCI	0.761754	0.69937	D	0.345426425753767	0.58498	4.022457	0.366773025040954	0.59526	4.131017	0.994677149643568	0.33747	0.67177	0.52595	0	0.541168	0.11318	0	0.702456	0.68683	0	0.562822	0.20929	0	.	.	4.28	4.28	0.50183	3.731000	0.54739	11.537000	0.93115	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.0:0.8259:0.1741	11.921	0.52076	994	0.00715	Kinesin-like;.;.;.;.;.;.;Kinesin-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	.	.	.	.	.	.	.	.	0.05	1911.43	37	chr2	240740088	.	G	A	1911.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.681;DP=515;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=-0.264;SOR=0.716	GT:AD:DP:GQ:PL	0/1:107,91:198:99:1923,0,2453	9	0	1	0
chr2	240869336	240869336	G	A	exonic	AGXT	.	nonsynonymous SNV	AGXT:NM_000030:exon2:c.G332A:p.R111Q	Hyperoxaluria, primary, type 1, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	YES	200472	Primary_hyperoxaluria,_type_I|not_provided	MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.954	0.903926951278	7.7e-05	.	3.466e-05	0	0	0	0	3.094e-05	0	0.0002	2.59e-05	4	154602	rs180177203	2.201e-05	2.189e-05	2.596e-05	1.8e-05	0.0003	1.593e-05	1.363e-05	6.303e-05	4.798e-05	0	0	0	0	1.907e-05	0.0003	1.716e-05	0	0.0001	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	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.25	0.98048	H	-3.42	0.94348	D	-3.81	0.71882	D	0.984	0.99337	1.108	0.99852	D	0.941	0.98074	D	10	0.98729414	0.99087	D	0.903927	0.99279	D	0.954	0.99189	.	.	0.964948117445	0.96457	0.9680569701085651	0.96793	0.263199542763	0.28875	0.497315853834	0.38454	T	0.891317	0.97795	D	0.385047	0.89031	D	0.520823	0.95009	D	0.992587268352509	0.83102	D	0.956971	0.83666	D	0.92776644	0.94013	0.82952845	0.90154	0.92776644	0.94014	0.82952845	0.90154	-11.323	0.81399	D	0.8248429900178341	0.89703	0.442	0.61827	A	.	.	5.261481	0.88341	29.6	0.99955185936666069	0.99969	0.98781	0.86770	D	AEFBI	0.958616	0.97849	D	0.848130492506997	0.89002	9.795716	0.684633239185617	0.81211	7.474165	0.999999999998865	0.74766	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.12	4.12	0.47504	9.213000	0.94240	9.438000	0.80821	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.730000	0.35099	0.0:0.0:1.0:0.0	16.738	0.85311	982	0.03397	Aminotransferase class V domain	.	.	.	.	.	Uncertain significance	0	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	.	.	.	.	.	.	.	.	0.05	781.43	34	chr2	240869336	.	G	A	781.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.997;DP=392;ExcessHet=0;FS=2.597;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.041;SOR=0.393	GT:AD:DP:GQ:PL	0/1:34,29:63:99:793,0,1031	9	0	1	0
chr2	240965889	240965889	C	T	exonic	CROCC2	.	nonsynonymous SNV	CROCC2:NM_001351305:exon24:c.C3857T:p.A1286V	.	416	1060	43	3	0	49	0.0225911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	.	.	.	.	.	.	.	.	0.0002587	40	154602	rs578065848	0.0009	0.0008	0.0007	0.0011	0.0129	0.0008	0.0008	0.0104	0.0095	0.0002	0.0016	0.0041	3.042e-05	0	0.0129	0.0004	0.0020	0.0080	0.0008	0.0008	0.0008	0.0008	0.0070	0.0007	0.0007	0.0052	0.0045	0.0001	0	0.0014	0.0037	0	0	0.0068	0.0006	0.0043	0.0070	.	.	.	0.06	0.45744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.12913	.	.	.	.	.	.	.	0.004706025	0.00099	T	.	.	.	.	.	.	.	0.234412748748	0.23057	0.1971725146787522	0.19634	.	.	.	.	.	0.008267	0.07601	T	-0.650471	0.00072	T	-0.840068	0.01098	T	.	.	.	.	.	.	0.023476645	0.01090	0.065842256	0.13404	0.023476645	0.01090	0.065842256	0.13403	-4.725	0.33705	T	.	.	0.113	0.22208	B	.	.	0.300233	0.06761	3.275	0.6908852732698425	0.08861	0.01708	0.05424	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999941590451895	0.47345	0.084033	0.02218	0	0.050367	0.00097	1	0.074216	0.02223	0	0.079188	0.02158	0	0.277069	0.33944	4.32	0.362	0.15348	-0.421000	0.07118	-1.248000	0.05914	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.3965:0.0:0.6035	7.433	0.26309	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	.	.	.	.	.	.	.	.	0.05	319.43	46	chr2	240965889	.	C	T	319.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=421;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.94;ReadPosRankSum=0.176;SOR=0.741	GT:AD:DP:GQ:PL	0/1:31,15:46:99:331,0,829	9	0	1	0
chr2	241468311	241468311	C	T	exonic	FARP2	.	nonsynonymous SNV	FARP2:NM_014808:exon18:c.C2065T:p.R689C	.	431	1085	5	1	0	7	0.00321543	.	.	.	3432128	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.438	0.304377772976	7.7e-05	.	8.296e-05	0	0.0006	0	0	3.025e-05	0	6.058e-05	6.47e-05	10	154602	rs371732314	4.586e-05	4.583e-05	4.631e-05	4.54e-05	0.0014	3.663e-05	3.349e-05	0.0007	0.0005	0	0.0002	0	2.519e-05	3.798e-05	0.0014	3.417e-05	3.312e-05	5.797e-05	1.312e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.063	0.36709	T	0.065	0.44702	T	0.999	0.77913	D	0.828	0.59497	P	0.000208	0.47681	D	0.132550	0.999334	0.46701	D	2.045	0.56016	M	-0.35	0.68616	T	-5.21	0.83763	D	0.404	0.44474	-0.4802	0.69359	T	0.321	0.68986	T	10	0.4131715	0.56363	T	0.304378	0.90986	D	0.438	0.74235	.	.	0.704587578234	0.70202	0.34701300616366715	0.34615	0.38536958446	0.39828	0.33414721489	0.15560	T	0.300841	0.67331	T	-0.203565	0.20291	T	-0.236697	0.51120	T	0.566395938396454	0.35097	D	0.946505	0.79528	D	0.28001082	0.51049	0.4410702	0.67403	0.28001082	0.51049	0.4410702	0.67404	-9.772	0.72535	D	.	.	0.150	0.33249	B	.	.	5.081050	0.84794	28.4	0.99922065141742367	0.98852	0.95599	0.65367	D	AEFDBI	0.759805	0.69802	D	0.624372469354337	0.74718	6.180716	0.604122294929415	0.75238	6.275504	0.800405162718913	0.24176	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.96	4.0	0.45673	5.876000	0.69414	3.143000	0.36491	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.987000	0.62547	0.3331:0.54:0.1269:0.0	6.845	0.23163	982	0.03397	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1974.43	39	chr2	241468311	.	C	T	1974.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.051;DP=528;ExcessHet=0;FS=0.747;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=2.06;SOR=0.585	GT:AD:DP:GQ:PL	0/1:46,75:121:99:1986,0,1027	9	0	1	0
chr2	241559531	241559531	C	G	exonic	BOK	.	nonsynonymous SNV	BOK:NM_032515:exon2:c.C48G:p.D16E	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.0494748583019	0.0002	0.000599042	0.0022	0.0010	0.0010	0	0	0.0040	0	0.0012	0.0004528	70	154602	rs148655369	0.0005	0.0005	0.0005	0.0005	0.0095	0.0005	0.0005	0.0075	0.0068	0.0005	0.0001	0.0015	0	0	0.0095	0.0005	0.0009	0.0006	0.0004	0.0004	0.0005	0.0004	0.0008	0.0003	0.0003	0.0004	0.0003	0.0003	0	0.0004	0.0017	0	0	0.0068	0.0005	0.0009	0.0008	0.745	0.03642	T	1.0	0.01155	T	0.013	0.16609	B	0.006	0.12133	B	0.138607	0.18372	U	0.532828	0.693175	0.30172	N	0.27	0.09956	N	2.28	0.17271	T	-0.78	0.21644	N	0.053	0.02462	-0.9953	0.31218	T	0.009	0.03183	T	10	0.007321894	0.00167	T	0.049475	0.63828	D	0.070	0.20419	0.355	0.35571	0.151104730317	0.14643	0.12851615478675787	0.12776	1.23558500753	0.81454	0.88371104002	0.94456	D	0.13331	0.46391	T	-0.657457	0.00065	T	-0.797695	0.01961	T	0.0128139267183558	0.00218	T	0.781822	0.41691	T	0.07006757	0.15403	0.032849967	0.02084	0.07006757	0.15403	0.032849967	0.02084	-3.183	0.12274	T	.	.	0.193	0.41264	B	.	.	1.501531	0.19302	14.19	0.90296168723411152	0.19563	0.14794	0.18588	N	AEFDBHCIJ	0.073512	0.14706	N	-1.10724340682353	0.06513	0.3000349	-0.938284526142739	0.11196	0.5688847	0.999999979499972	0.74766	0.72623	0.87236	0	0.491552	0.07993	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	3.0	0.609	0.16752	-0.157000	0.10072	-0.258000	0.10450	-1.096000	0.01523	0.940000	0.32642	0.276000	0.24078	0.979000	0.57723	0.2997:0.2925:0.2753:0.1324	1.120	0.01617	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	0.008709	0.000000	0.015068	0.017857	0.000000	0.000000	0.000000	0.000000	0.05	1146.43	33	chr2	241559531	.	C	G	1146.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.031;DP=392;ExcessHet=0;FS=0.861;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=1.1;SOR=0.617	GT:AD:DP:GQ:PL	0/1:30,53:83:99:1158,0,594	9	0	1	0
chr3	10336137	10336139	GCA	-	exonic	ATP2B2	.	nonframeshift deletion	ATP2B2:NM_001330611:exon20:c.3447_3449del:p.A1151del,ATP2B2:NM_001363862:exon20:c.3447_3449del:p.A1151del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.743e-05	0	0	0	0	0.0002	0	0	6.5e-06	1	154602	rs777510523	1.931e-05	1.847e-05	1.835e-05	2.03e-05	2.502e-05	1.322e-05	1.133e-05	1.714e-05	1.469e-05	0	0	0	0	0	0	2.502e-05	0	0	3.286e-05	3.284e-05	2.57e-05	4.037e-05	7.351e-05	1.261e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2305.39	34	chr3	10336136	.	TGCA	T	2305.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.175;DP=440;ExcessHet=0;FS=0.669;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.3;ReadPosRankSum=-0.567;SOR=0.575	GT:AD:DP:GQ:PL	0/1:63,63:126:99:2317,0,2406	9	0	1	0
chr3	27721936	27721936	G	C	exonic	EOMES	.	nonsynonymous SNV	EOMES:NM_001278182:exon1:c.C359G:p.A120G,EOMES:NM_005442:exon1:c.C359G:p.A120G	.	.	.	.	.	.	.	.	.	.	.	140915	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.335	0.321973565726	.	.	0.0006	0	0	0	.	0	0	0.0008	0.0001153	3	26028	rs1874198	0.0005	0.0028	0.0004	0.0006	0.0027	0.0005	0.0005	0.0022	0.0021	0.0002	0.0027	0.0014	0.0002	0.0007	0.0006	0.0004	0.0006	0.0026	5.294e-05	0.0002	5.173e-05	5.42e-05	7.389e-05	2.573e-05	1.842e-05	2.858e-05	1.866e-05	0	0	0	0	0	0.0003	0	7.389e-05	0	0	0.164	0.23360	T	0.062	0.45318	T	0.225	0.30426	B	0.005	0.11217	B	0.809191	0.06817	N	1.083960	1	0.18198	P	1.1	0.28011	L	-2.17	0.86815	D	-0.2	0.10136	N	0.218	0.30461	-1.0770	0.07942	T	0.000	0.00011	T	8	0.0058003366	0.00129	T	0.321974	0.91501	D	0.335	0.65718	.	.	.	.	0.33471923188034136	0.33384	0.609113261058	0.55654	0.867552280426	0.92217	D	0.332685	0.70263	T	-0.371724	0.03507	T	-0.275316	0.47281	T	0.0601108897208742	0.07187	T	0.59644	0.22167	T	0.11815584	0.27843	0.21122895	0.45543	0.11815584	0.27842	0.21122895	0.45542	-9.302	0.69676	D	.	.	0.116	0.23395	B	.;.	.;.	2.956025	0.39350	20.9	0.95573808588559095	0.27270	0.21227	0.21327	N	AEFDBHCIJ	0.072296	0.14424	N	-0.83492007230313	0.12424	0.6055239	-0.958454681860755	0.10727	0.5421525	0.999999921793804	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	0.225	-0.451	0.11604	4.020000	0.56900	7.046000	0.57354	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.831000	0.39176	.	.	.	906	0.23090	.;.	.	.	.	.	rs12715125	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	0.173193	0.175676	0.102871	0.234375	0.125000	0.050000	0.205357	0.134146	0.05	3510.5	15	chr3	27721936	.	G	C	3510.5	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.784;DP=173;ExcessHet=2.8549;FS=2.214;InbreedingCoeff=-0.2501;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=23.88;ReadPosRankSum=-0.411;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,2:14:45:0|1:27721914_C_G:45,0,462:27721914	9	0	1	0
chr3	38274348	38274348	C	T	exonic	SLC22A13	.	nonsynonymous SNV	SLC22A13:NM_004256:exon2:c.C455T:p.T152I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.117847334361	.	.	8.237e-06	9.612e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs776941043	6.945e-07	6.856e-07	0	1.394e-06	9.158e-07	0	0	.	.	0	0	0	0	0	0	9.158e-07	0	0	6.584e-06	6.572e-06	1.287e-05	0	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.001	0.83351	D	0.336	0.33356	B	0.197	0.36707	B	0.000041	0.55875	D	0.160393	0.91999	0.27315	N	0.975	0.24501	L	-0.8	0.73845	T	-1.65	0.39503	N	0.224	0.25130	-0.6220	0.63905	T	0.280	0.65199	T	10	0.2761759	0.45178	T	0.117847	0.79773	D	0.169	0.43123	.	.	0.431822907236	0.42802	0.6849680317828866	0.68435	0.093049406823	0.10513	0.307169735432	0.11479	T	0.190123	0.54457	T	-0.226641	0.17095	T	-0.381802	0.35511	T	0.423841953277588	0.29832	T	0.810819	0.46223	T	0.16368291	0.36526	0.17753635	0.40361	0.16368291	0.36526	0.17753635	0.40360	-6.668	0.51569	T	.	.	0.291	0.52235	B	.	.	1.799209	0.22867	15.79	0.95994727687277159	0.28397	0.71306	0.34956	D	AEFBI	0.220876	0.34557	N	-0.564692599331607	0.20025	1.05262	-0.587791459337987	0.19810	1.065	0.996808560441363	0.35023	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.07	4.2	0.48814	3.549000	0.53431	0.356000	0.17526	-0.187000	0.09635	0.924000	0.32081	0.000000	0.08366	0.064000	0.16252	0.0:0.8541:0.1459:0.0	14.714	0.68872	432	0.80690	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	.	.	.	.	.	.	.	.	0.05	34.58	37	chr3	38274348	.	C	T	34.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-6.114;DP=891;ExcessHet=0.2348;FS=142.249;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.07;ReadPosRankSum=1.96;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,36:254:46:0|1:38274348_C_T:46,0,7201:38274348	9	0	1	0
chr3	39143393	39143393	G	A	exonic	CSRNP1	.	nonsynonymous SNV	CSRNP1:NM_001320559:exon5:c.C1492T:p.L498F,CSRNP1:NM_001320560:exon5:c.C1432T:p.L478F,CSRNP1:NM_033027:exon5:c.C1432T:p.L478F	.	424	1051	45	2	0	49	0.0227801	.	.	.	166006	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.061	.	0.0051	0.00579073	0.0063	0.0013	0.0030	0.0002	0.0006	0.0063	0.0089	0.0167	0.0062871	972	154602	rs147162469	0.0067	0.0067	0.0063	0.0071	0.0258	0.0066	0.0066	0.0225	0.0212	0.0010	0.0032	0.0160	0.0001	0.0008	0.0258	0.0063	0.0069	0.0188	0.0048	0.0048	0.0049	0.0048	0.0147	0.0045	0.0044	0.0120	0.0109	0.0013	0.0824	0.0033	0.0196	0	0.0004	0.0170	0.0058	0.0066	0.0147	0.168	0.23007	T	0.377	0.16134	T	0.001	0.07471	B	0.003	0.08700	B	0.891722	0.08682	N	0.942455	1	0.08975	N	1.83	0.48079	L	0.87	0.46412	T	-1.18	0.30140	N	0.029	0.00666	-0.9916	0.32193	T	0.057	0.23980	T	10	0.002443254	0.00036	T	.	.	.	0.061	0.17616	.	.	0.171220215726	0.16700	0.08683155020011654	0.08617	0.275595305598	0.30031	0.320648282766	0.13520	T	0.157448	0.50005	T	-0.663042	0.00060	T	-0.710911	0.05248	T	0.00116828457777111	0.00011	T	0.60024	0.22396	T	0.045485523	0.07452	0.049600035	0.07614	0.045485523	0.07451	0.049600035	0.07614	-4.446	0.30176	T	.	.	0.066	0.02257	B	.;.	.;.	1.159448	0.15481	11.88	0.83339099341535916	0.14672	0.08042	0.14018	N	AEFDBHCI	0.097531	0.19669	N	-1.07311803704485	0.07142	0.3308889	-1.09388590543755	0.07820	0.3819119	0.999999053823196	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.37	-1.03	0.09586	0.650000	0.24544	1.896000	0.29550	-0.119000	0.14319	0.093000	0.22645	0.974000	0.29927	0.668000	0.33194	0.2303:0.2771:0.4926:0.0	7.817	0.28427	369	0.84396	.;.	.	.	.	.	.	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	0.018649	0.005102	0.014946	0.029240	0.000000	0.025862	0.033537	0.015152	0.05	1044.43	36	chr3	39143393	.	G	A	1044.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.09;DP=410;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.323;SOR=0.631	GT:AD:DP:GQ:PL	0/1:61,40:101:99:1056,0,1682	9	0	1	0
chr3	40462030	40462041	CTGCTGCTGCTG	-	exonic	RPL14	.	nonframeshift deletion	RPL14:NM_001034996:exon6:c.446_457del:p.A156_A159del,RPL14:NM_003973:exon6:c.446_457del:p.A156_A159del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs1369704255	0.0011	0.0010	0.0010	0.0011	0.0110	0.0010	0.0010	0.0101	0.0097	0.0038	0.0012	0.0019	0.0110	9.955e-05	0.0041	0.0006	0.0019	0.0012	0.0016	0.0016	0.0013	0.0019	0.0150	0.0014	0.0014	0.0123	0.0113	0.0021	0.0066	0.0008	0.0017	0.0150	9.789e-05	0.0034	0.0006	0.0015	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	18630.1	55	chr3	40462029	.	ACTGCTGCTGCTG	A	18630.1	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.666;DP=690;ExcessHet=0;FS=1.322;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.14;MQRankSum=-2.303;QD=31.29;ReadPosRankSum=0.742;SOR=0.711	GT:AD:DP:GQ:PL	1/0:0,33:68:99:2783,1429,1741	9	0	1	0
chr3	42688262	42688262	G	A	exonic	KLHL40	.	nonsynonymous SNV	KLHL40:NM_152393:exon2:c.G1273A:p.G425S	Nemaline myopathy 8, autosomal recessive	420	1101	1	0	0	1	0.000453926	.	.	YES	452605	Inborn_genetic_diseases|Nemaline_myopathy_8|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014138,MedGen:C3809209,OMIM:615348,Orphanet:171430|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.093	0.263120535752	0.0008	0.000798722	0.0009	0.0002	0.0012	0.0005	0.0002	0.0013	0.0022	0.0001	0.0009702	150	154602	rs138791086	0.0012	0.0012	0.0012	0.0011	0.0046	0.0011	0.0011	0.0040	0.0038	8.961e-05	0.0013	3.826e-05	0.0046	0.0002	0.0003	0.0012	0.0007	0.0001	0.0008	0.0008	0.0008	0.0008	0.0013	0.0007	0.0006	0.0010	0.0010	0.0003	0	0.0009	0	0.0008	9.427e-05	0	0.0013	0.0028	0.0002	0.373	0.11442	T	0.635	0.07082	T	0.112	0.26290	B	0.032	0.22131	B	0.000504	0.43753	N	0.236285	0.959837	0.38148	D	2.57	0.75187	M	-0.47	0.70133	T	-2.23	0.50012	N	0.266	0.30118	-0.8002	0.55133	T	0.217	0.57915	T	10	0.01951465	0.00437	T	0.263121	0.89587	D	0.093	0.26882	.	.	0.782926529619	0.78092	0.2684683412042599	0.26759	0.0679534120877	0.07611	0.500183582306	0.38853	T	0.198985	0.55614	T	-0.458496	0.01004	T	-0.466752	0.25867	T	0.0208075538961693	0.00780	T	0.649435	0.26018	T	0.13275705	0.30903	0.11937691	0.28815	0.13275705	0.30903	0.11937691	0.28815	-5.145	0.38377	T	.	.	0.074	0.05188	B	.	.	2.479380	0.31973	18.90	0.9877332865759596	0.46002	0.93275	0.57783	D	AEFDGBI	0.501104	0.53408	D	-0.239948414452765	0.31507	1.767325	-0.126247792867109	0.34335	1.973898	0.999977584235953	0.50053	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.99	3.14	0.35196	2.879000	0.48220	3.974000	0.40849	0.586000	0.30580	0.990000	0.36992	0.999000	0.35428	0.804000	0.37906	0.0802:0.1441:0.7757:0.0	9.535	0.38383	358	0.85037	.	.	.	.	.	.	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	0.003049	0.000000	0.05	2461.43	35	chr3	42688262	.	G	A	2461.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=520;ExcessHet=0;FS=2.422;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.676;SOR=0.536	GT:AD:DP:GQ:PL	0/1:102,99:201:99:2473,0,2420	9	0	1	0
chr3	46446446	46446446	C	T	exonic	LTF	.	nonsynonymous SNV	LTF:NM_001199149:exon11:c.G1219A:p.V407M,LTF:NM_001321121:exon11:c.G1345A:p.V449M,LTF:NM_002343:exon11:c.G1351A:p.V451M,LTF:NM_001321122:exon14:c.G1312A:p.V438M	.	427	1036	57	2	0	61	0.0285982	.	.	.	708874	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.083	.	0.0072	0.00419329	0.0084	0.0022	0.0059	0	0.0006	0.0084	0.0110	0.0217	0.007846	1213	154602	rs61739313	0.0078	0.0078	0.0072	0.0084	0.0253	0.0077	0.0076	0.0220	0.0210	0.0009	0.0051	0.0172	7.56e-05	0.0007	0.0253	0.0072	0.0085	0.0221	0.0050	0.0050	0.0053	0.0048	0.0174	0.0047	0.0046	0.0144	0.0133	0.0013	0	0.0039	0.0190	0.0002	0.0007	0.0306	0.0068	0.0104	0.0174	0.034	0.46129	D	0.129	0.36101	T	0.791	0.67487	P	0.34	0.63213	B	0.000015	0.00162	N	6.968180	1	0.08975	N	1.725	0.44537	L	3.21	0.07125	T	-0.78	0.22944	N	0.166	0.17691	-0.9927	0.31906	T	0.023	0.09604	T	10	0.0039860904	0.00077	T	.	.	.	0.083	0.24192	.	.	0.126345400529	0.12197	0.34706130118152995	0.34620	0.124778172504	0.14054	0.258332192898	0.04694	T	0.083964	0.37173	T	-0.653136	0.00069	T	-0.694704	0.06119	T	0.0155953161609467	0.00356	T	0.146985	0.01214	T	0.14808123	0.33823	0.10696175	0.25742	0.14808123	0.33823	0.10696175	0.25742	-4.658	0.33246	T	.	.	0.112	0.28116	B	.;.;.;.	.;.;.;.	0.365685	0.07381	4.005	0.98318891806542186	0.40222	0.00740	0.03091	N	AEFDGBHI	0.038641	0.05498	N	-0.703131132027061	0.15934	0.8074205	-0.893101611508219	0.12256	0.6294228	0.999592495529945	0.40745	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.41	-5.27	0.02551	-1.816000	0.01814	-2.291000	0.03942	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.970000	0.54328	0.2332:0.2655:0.3335:0.1678	1.597	0.02505	422	0.81333	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;.;Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;Transferrin-like domain|Transferrin-like domain|Transferrin-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	1	0	1	0	0.013595	0.000000	0.006793	0.017544	0.000000	0.017241	0.036585	0.015152	0.05	835.43	38	chr3	46446446	.	C	T	835.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.626;DP=421;ExcessHet=0;FS=0.807;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-0.245;SOR=0.795	GT:AD:DP:GQ:PL	0/1:51,37:88:99:847,0,1203	9	0	1	0
chr3	49686750	49686750	C	G	exonic	MST1	.	nonsynonymous SNV	MST1:NM_020998:exon7:c.G781C:p.E261Q	.	405	1107	10	0	0	10	0.0044964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0221806078997	.	.	0.0031	0.0060	0.0034	0.0037	0	0.0027	0.0041	0.0031	0.00073	19	26028	rs201944579	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0035	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	9.895e-05	0	0.0005	0	0	9.99e-05	0	0.0002	0.0005	0.0002	0.487	0.08067	T	0.511	0.10785	T	0.575	0.38708	P	0.443	0.45803	B	0.288530	0.14811	N	0.531760	0.993125	0.81001	D	.	.	.	-0.3	0.67874	T	-0.54	0.16598	N	0.315	0.35514	-0.5302	0.67534	T	0.371	0.73016	T	10	0.02078408	0.00485	T	0.022181	0.45042	T	0.197	0.47942	.	.	0.801712144476	0.79986	0.5736695672780171	0.57295	0.763659519793	0.64390	0.596491217613	0.52408	T	.	.	.	0.0232016	0.54813	T	-0.204449	0.54224	T	0.0514656409417245	0.05755	T	0.593441	0.21910	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31151	B	.	.	3.652228	0.51842	23.2	0.99617675938671457	0.75233	0.77796	0.38294	D	AEFBCI	0.664682	0.63376	D	0.408728035343709	0.61901	4.397673	0.486399716992331	0.67087	5.03744	0.99999999966497	0.74766	0.766844	0.99359	0	0.851219	0.99844	0	0.391439	0.06340	0	0.56751	0.32155	0	.	.	5.75	5.75	0.90390	3.091000	0.49896	7.583000	0.61020	0.598000	0.34611	0.989000	0.36753	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	19.952	0.97204	1	0.99630	Kringle|Kringle, conserved site|Kringle|Kringle|Kringle	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020142	0.035714	0.006925	0.030973	0.000000	0.017544	0.026515	0.020492	0.1	108.14	49	chr3	49686750	.	C	G	108.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.35;DP=723;ExcessHet=0.2348;FS=40.423;InbreedingCoeff=-0.1109;MLEAC=2;MLEAF=0.1;MQ=47.86;MQRankSum=-3.87;QD=0.52;ReadPosRankSum=0.562;SOR=3.08	GT:AD:DP:GQ:PL	0/1:122,18:140:99:100,0,3140	8	0	2	0
chr3	49723078	49723078	T	C	exonic	GMPPB	.	nonsynonymous SNV	GMPPB:NM_013334:exon4:c.A296G:p.E99G,GMPPB:NM_021971:exon4:c.A296G:p.E99G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1774001	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A14|Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B14|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2T	MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350,Orphanet:588|MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351|MONDO:MONDO:0014142,MedGen:C4518000,OMIM:615352,Orphanet:363623	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.197	0.0490878157543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.368e-06	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.16903	T	0.508	0.10893	T	0.001	0.07471	B	0.008	0.13708	B	0.006199	0.32207	N	0.322199	0.999183	0.81001	D	-0.11	0.04642	N	-0.78	0.73631	T	-1.68	0.40082	N	0.371	0.45426	-0.8904	0.48899	T	0.141	0.46072	T	10	0.20036301	0.36080	T	0.049088	0.63658	D	0.197	0.47942	0.496	0.58520	0.638815175438	0.63584	0.32544358636516657	0.32457	0.645998904403	0.58027	0.601226568222	0.53077	T	0.505597	0.82416	D	-0.059007	0.43063	T	-0.322536	0.42296	T	0.666376113891602	0.39177	D	0.836716	0.50835	T	0.19559316	0.41354	0.2166425	0.46300	0.19559316	0.41354	0.2166425	0.46299	-4.23	0.27184	T	0.10877599314159113	0.09006	0.095	0.14842	B	.;.;.	.;.;.	3.988484	0.58685	24.0	0.96798053296875441	0.31139	0.81498	0.40889	D	AEFGBHCI	0.558629	0.56777	D	-0.499904294048186	0.22083	1.176713	-0.244627146180332	0.29956	1.682628	0.999999973897313	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.672317	0.60874	0	0.638787	0.57140	0	.	.	4.7	4.7	0.58776	3.953000	0.56407	7.847000	0.70787	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	13.336	0.59957	2	0.99499	Nucleotidyl transferase domain;Nucleotidyl transferase domain;Nucleotidyl transferase 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	.	.	.	.	.	.	.	.	0.05	1218.43	47	chr3	49723078	.	T	C	1218.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.054;DP=489;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.282;SOR=0.653	GT:AD:DP:GQ:PL	0/1:50,51:101:99:1230,0,1316	9	0	1	0
chr3	50331440	50331440	C	T	exonic	RASSF1	.	nonsynonymous SNV	RASSF1:NM_001206957:exon4:c.G317A:p.R106Q,RASSF1:NM_170713:exon4:c.G560A:p.R187Q,RASSF1:NM_007182:exon5:c.G770A:p.R257Q,RASSF1:NM_170712:exon5:c.G317A:p.R106Q,RASSF1:NM_170714:exon5:c.G782A:p.R261Q	Lung cancer, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0463555620896	0.0024	0.00159744	0.0023	0.0008	0.0015	0	0.0009	0.0034	0.0035	0.0009	0.0022445	347	154602	rs150999288	0.0022	0.0022	0.0022	0.0023	0.0026	0.0022	0.0022	0.0025	0.0025	0.0003	0.0021	0.0001	0	0.0015	0.0021	0.0026	0.0019	0.0009	0.0017	0.0017	0.0019	0.0015	0.0027	0.0015	0.0015	0.0024	0.0023	0.0004	0	0.0022	0	0.0002	0.0012	0.0034	0.0027	0.0028	0.0010	0.425	0.11050	T	0.385	0.15939	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	1.21	0.37230	T	-1.16	0.34596	N	0.286	0.36779	-0.9338	0.43575	T	0.157	0.48875	T	10	0.0109910965	0.00242	T	0.046356	0.62419	D	0.221	0.51721	.	.	0.675001386424	0.67224	0.743750890469516	0.74321	1.21827803799	0.81024	0.566650152206	0.48205	T	0.113584	0.43073	T	-0.241745	0.15128	T	-0.121183	0.61706	T	0.0162459454789214	0.00397	T	0.90251	0.69206	D	0.14768428	0.33750	0.14686736	0.34778	0.14768428	0.33750	0.14686736	0.34778	-10.494	0.76813	D	.	.	0.330	0.55229	B	.;.;.;.;.	.;.;.;.;.	5.477736	0.91342	32	0.99929507130667894	0.99279	0.95668	0.65651	D	AEFBCI	0.619189	0.60472	D	0.513604487614475	0.67895	5.142977	0.524830972381729	0.69666	5.392965	0.999999999999999	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	5.55	0.83298	3.280000	0.51382	5.951000	0.51650	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.710000	0.34452	0.0:1.0:0.0:0.0	18.089	0.89398	2	0.99499	.;.;.;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	0.002518	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1953.43	34	chr3	50331440	.	C	T	1953.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.73;DP=443;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=0.339;SOR=0.687	GT:AD:DP:GQ:PL	0/1:54,71:125:99:1965,0,1283	9	0	1	0
chr3	52211507	52211507	G	A	exonic	ALAS1	.	nonsynonymous SNV	ALAS1:NM_001304443:exon9:c.G1555A:p.G519S,ALAS1:NM_199166:exon9:c.G1555A:p.G519S,ALAS1:NM_000688:exon10:c.G1555A:p.G519S,ALAS1:NM_001304444:exon10:c.G1606A:p.G536S	.	.	.	.	.	.	.	.	.	.	.	3263817	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.420	0.135411513482	0.0002	.	4.12e-05	0	0	0	0	5.998e-05	0	6.056e-05	4.53e-05	7	154602	rs370684990	6.567e-05	6.567e-05	7.759e-05	5.363e-05	0.0002	5.495e-05	5.107e-05	6.409e-05	5.909e-05	0	0	0	0	0	0.0002	7.734e-05	4.967e-05	6.956e-05	3.939e-05	3.937e-05	1.285e-05	6.714e-05	0.0002	1.714e-05	1.129e-05	2.846e-05	1.858e-05	0	0	0	0	0.0002	0	0	7.35e-05	0	0	0.011	0.55530	D	0.034	0.52727	D	0.136	0.27347	B	0.141	0.33616	B	0.000000	0.84330	D	0.048629	1	0.81001	D	3.465	0.92394	M	-4.29	0.97149	D	-5.79	0.88065	D	0.45	0.48780	0.321	0.87887	D	0.553	0.83654	D	10	0.5938431	0.66530	D	0.135412	0.81787	D	0.852	0.95433	.	.	0.912867523777	0.91199	0.7958503769393782	0.79538	0.251119777169	0.27690	0.62674343586	0.56683	T	0.919284	0.98542	D	0.180041	0.72046	D	0.257509	0.85978	D	0.804172515869141	0.46639	D	0.940006	0.77317	D	0.67095107	0.76484	0.74655086	0.85019	0.67095107	0.76485	0.74655086	0.85019	-11.036	0.79855	D	.	.	0.232	0.49988	B	.;.;.;.	.;.;.;.	4.000281	0.58941	24.0	0.99719988056437869	0.81984	0.97599	0.75810	D	AEFBCI	0.921465	0.89498	D	0.535118502417407	0.69183	5.320747	0.54236281247612	0.70867	5.568877	0.999999999986138	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.0	0.66209	6.890000	0.75451	6.601000	0.56056	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0674:0.0:0.9326:0.0	15.282	0.73491	277	0.89083	Aminotransferase, class I/classII|Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase;Aminotransferase, class I/classII|Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase;Aminotransferase, class I/classII|Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase;Aminotransferase, class I/classII|Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase	.	.	.	.	.	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	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1484.43	35	chr3	52211507	.	G	A	1484.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.79;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-1.155;SOR=0.764	GT:AD:DP:GQ:PL	0/1:58,55:113:99:1496,0,1376	9	0	1	0
chr3	52480508	52480508	C	T	exonic	NISCH	.	stopgain	NISCH:NM_001276293:exon13:c.C1741T:p.Q581X	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0	0	0	0	0.0005	0	0.0011	4.53e-05	7	154602	rs771939154	7.033e-05	6.84e-05	4.908e-05	9.223e-05	0.0005	5.884e-05	5.469e-05	0.0003	0.0003	0	3.167e-05	4.181e-05	0	0	0.0004	5.044e-05	3.51e-05	0.0005	5.908e-05	5.905e-05	3.854e-05	8.055e-05	0.0006	3.075e-05	2.208e-05	0.0002	8.992e-05	0	0	6.533e-05	0	0	0	0	7.35e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999969	0.18878	N	.	.	.	.	.	.	.	.	.	0.13	0.12484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.628068	0.00098	T	-0.799404	0.01917	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625966	0.09942	6.701	0.86646642420493614	0.16677	0.05819	0.11758	N	AEFDBCI	0.022994	0.01221	N	-0.679702057680217	0.16601	0.8472618	-0.877095693867154	0.12638	0.6512352	0.967084514409668	0.28951	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.22	-2.38	0.06243	0.175000	0.16577	-1.953000	0.04442	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.290000	0.24260	0.3081:0.298:0.0:0.3939	3.135	0.06050	73	0.96914	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1485.43	33	chr3	52480508	.	C	T	1485.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.765;DP=422;ExcessHet=0;FS=1.537;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-1.09;SOR=0.906	GT:AD:DP:GQ:PL	0/1:50,60:110:99:1497,0,1227	9	0	1	0
chr3	52529325	52529325	G	A	exonic	NT5DC2	.	nonsynonymous SNV	NT5DC2:NM_001134231:exon2:c.C242T:p.P81L,NT5DC2:NM_022908:exon2:c.C131T:p.P44L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.0466695617476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	0.615	0.39791	P	0.356	0.43023	B	0.000000	0.84330	D	0.050537	1	0.81001	D	0	0.06538	N	1.86	0.30669	T	-3.43	0.74348	D	0.744	0.75192	-0.9573	0.39681	T	0.082	0.32178	T	10	0.7123381	0.73125	D	0.04667	0.62564	D	0.361	0.68141	0.57	0.69299	0.558774299873	0.55538	0.6740307043941967	0.67341	0.989763298136	0.74026	0.931964635849	0.99095	D	0.158751	0.50190	T	0.0538762	0.58840	T	-0.160387	0.58318	T	0.949266791343689	0.63076	D	0.933407	0.75038	D	0.41666168	0.61869	0.38913304	0.63740	0.41666168	0.61869	0.38913304	0.63740	-6.786	0.72060	T	.	.	0.227	0.68044	B	.;.;.	.;.;.	5.341971	0.89632	31	0.99737873430990776	0.83264	0.99290	0.94024	D	AEFDGBCI	0.976484	0.99675	D	0.487267643133503	0.66346	4.938215	0.596971036206043	0.74722	6.185603	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.38	5.38	0.77279	9.602000	0.97623	11.781000	0.96113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.126	0.93367	97	0.95994	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1059.43	40	chr3	52529325	.	G	A	1059.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.334;DP=432;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-1.489;SOR=0.603	GT:AD:DP:GQ:PL	0/1:48,42:90:99:1071,0,1295	9	0	1	0
chr3	53823399	53823399	C	T	exonic	CHDH	.	nonsynonymous SNV	CHDH:NM_018397:exon3:c.G610A:p.E204K	.	418	1101	3	0	0	3	0.00136054	.	.	.	3422620	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.0282215477471	.	.	7.86e-05	0	0	0	0	0.0001	0	0	3.88e-05	6	154602	rs771398046	4.615e-05	4.652e-05	4.927e-05	4.299e-05	0.0012	3.687e-05	3.37e-05	0.0006	0.0004	0	2.284e-05	0	0	0	0.0012	4.426e-05	8.351e-05	5.918e-05	4.599e-05	4.596e-05	5.137e-05	4.035e-05	0.0002	2.109e-05	1.527e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0.0002	0.257	0.16738	T	0.332	0.18449	T	0.025	0.19245	B	0.026	0.20792	B	0.000670	0.42516	D	0.235426	0.504587	0.31697	N	0.89	0.21648	L	1.03	0.40469	T	-1.55	0.37566	N	0.412	0.45237	-1.0284	0.20973	T	0.073	0.29643	T	10	0.28027266	0.45602	T	0.028222	0.50927	D	0.039	0.10176	0.548	0.66296	0.352262096564	0.34836	0.43977306932644467	0.43894	0.319636368641	0.34164	0.383739769459	0.22785	T	0.297936	0.67052	T	-0.331209	0.06020	T	-0.508985	0.21419	T	0.0539687900392593	0.06184	T	0.963204	0.86318	D	0.085471906	0.19827	0.117803656	0.28437	0.085471906	0.19827	0.117803656	0.28436	-6.147	0.47493	T	.	.	0.097	0.15609	B	.	.	1.758155	0.22363	15.59	0.99066053396432485	0.51598	0.92342	0.55490	D	AEFBI	0.290377	0.40178	N	-0.697439238002267	0.16093	0.8169769	-0.619285458480832	0.18998	1.017379	0.999631952173446	0.41205	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.564101	0.26826	0	.	.	5.72	-0.019	0.13286	2.453000	0.44627	0.955000	0.22950	-0.222000	0.07959	1.000000	0.71638	0.998000	0.33993	0.068000	0.16518	0.1083:0.3121:0.5158:0.0637	8.663	0.33263	576	0.70006	Glucose-methanol-choline oxidoreductase, 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	.	.	.	.	.	.	.	.	0.05	1173.43	33	chr3	53823399	.	C	T	1173.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.98;DP=433;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=-0.438;SOR=0.817	GT:AD:DP:GQ:PL	0/1:75,55:130:99:1185,0,1662	9	0	1	0
chr3	69181256	69181256	G	C	exonic	FRMD4B	.	nonsynonymous SNV	FRMD4B:NM_015123:exon21:c.C2494G:p.Q832E	.	429	1082	11	0	0	11	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.0529136556972	0.0023	0.000998403	0.0025	0.0010	0.0023	0	0.0005	0.0036	0.0022	0.0010	0.0023997	371	154602	rs199706552	0.0028	0.0028	0.0028	0.0028	0.0160	0.0027	0.0027	0.0133	0.0123	0.0010	0.0027	0.0156	0	0.0004	0.0160	0.0028	0.0034	0.0011	0.0022	0.0022	0.0023	0.0020	0.0033	0.0020	0.0019	0.0026	0.0023	0.0006	0	0.0033	0.0184	0	0.0006	0.0068	0.0025	0.0057	0.0010	0.01	0.56456	D	0.186	0.37872	T	0.737	0.42882	P	0.237	0.38508	B	0.000006	0.62929	D	0.109676	0.999491	0.47278	D	2.14	0.59869	M	-1.72	0.83241	D	-0.34	0.12661	N	0.524	0.55366	-0.0192	0.81855	T	0.475	0.79847	T	10	0.009417921	0.00213	T	0.052914	0.65261	D	0.434	0.73951	.	.	0.56437525427	0.56100	0.7345578573900866	0.73400	0.0547097148445	0.06054	0.462807297707	0.33696	T	0.007676	0.16191	T	-0.239893	0.15363	T	-0.117374	0.62017	T	0.0406746991656434	0.03812	T	0.959004	0.92475	D	0.12357676	0.29014	0.239332	0.49278	0.12357676	0.29014	0.239332	0.49277	-2.821	0.08378	T	.	.	0.209	0.43585	B	.;.	.;.	3.343665	0.46082	22.2	0.99272507748993633	0.57593	0.97791	0.77159	D	AEFGBCI	0.919008	0.88890	D	0.487089455058406	0.66336	4.936884	0.614264542042888	0.75976	6.406598	1.0	0.98316	0.730579	0.87903	0	0.546412	0.12157	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	5.83	5.83	0.93059	9.602000	0.97623	9.945000	0.82685	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	20.114	0.97919	547	0.72440	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.016304	0.011696	0.050000	0.017241	0.000000	0.003788	0.05	2215.43	82	chr3	69181256	.	G	C	2215.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.83;DP=801;ExcessHet=0;FS=2.583;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.546;SOR=0.503	GT:AD:DP:GQ:PL	0/1:98,85:183:99:2227,0,2493	9	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	21306.0	161	chr3	75730451	.	T	G	21306.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.248;DP=1190;ExcessHet=22.563;FS=6.109;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.37;MQRankSum=-6.108;QD=18.26;ReadPosRankSum=1.56;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,68:127:99:0|1:75730450_C_T:2597,0,2265:75730450	0	0	10	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3032.01	154	chr3	75736884	.	G	GA	3032.01	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.024;DP=1489;ExcessHet=22.563;FS=2.546;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.59;MQRankSum=-6.777;QD=2.12;ReadPosRankSum=0.738;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,37:136:99:.:.:646,0,3973:.	0	0	10	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	.	.	.	.	.	.	.	.	0.5	11377.0	152	chr3	75736891	.	G	A	11377.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.179;DP=1494;ExcessHet=22.563;FS=2.868;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.49;MQRankSum=-8.968;QD=7.73;ReadPosRankSum=0.917;SOR=0.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,40:139:99:.:.:1371,0,3933:.	0	0	10	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	.	.	.	.	.	.	.	.	0.45	11538.0	171	chr3	75736920	.	C	A	11538.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.484;DP=1551;ExcessHet=15.1594;FS=2.12;InbreedingCoeff=-0.8184;MLEAC=9;MLEAF=0.45;MQ=56.17;MQRankSum=-7.049;QD=8.32;ReadPosRankSum=-0.079;SOR=0.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,37:144:99:0|1:75736920_C_A:1206,0,4367:75736920	1	0	9	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	.	.	.	.	.	.	.	.	0.45	10802.1	180	chr3	75736928	.	C	T	10802.1	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.91;DP=1530;ExcessHet=15.1594;FS=2.159;InbreedingCoeff=-0.819;MLEAC=9;MLEAF=0.45;MQ=55.62;MQRankSum=-7.245;QD=7.92;ReadPosRankSum=0.071;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,34:143:99:0|1:75736920_C_A:1100,0,4475:75736920	1	0	9	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	.	.	.	.	.	.	.	.	0.4286	4700.28	186	chr3	75736981	.	T	C	4700.28	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.497;DP=1403;ExcessHet=4.5998;FS=0.574;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.5;MQ=52.94;MQRankSum=-7.6;QD=6.02;ReadPosRankSum=-0.695;SOR=0.76	GT:AD:DP:GQ:PL	0/1:92,35:127:99:757,0,2957	1	0	6	3
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	.	.	.	.	.	.	.	.	0.4	7273.34	218	chr3	75737012	.	C	T	7273.34	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.282;DP=1438;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6901;MLEAC=8;MLEAF=0.4;MQ=53.79;MQRankSum=-5.048;QD=6.21;ReadPosRankSum=1.1;SOR=0.722	GT:AD:DP:GQ:PL	0/1:89,50:139:99:1164,0,2870	2	0	8	0
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	.	.	.	.	.	.	.	.	0.45	10274.0	225	chr3	75737060	.	A	G	10274.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.615;DP=1524;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=54.04;MQRankSum=-5.089;QD=7.54;ReadPosRankSum=0.861;SOR=0.708	GT:AD:DP:GQ:PL	0/1:91,73:164:99:1646,0,2916	1	0	9	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	18634.0	209	chr3	75737092	.	C	T	18634.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.903;DP=1554;ExcessHet=22.563;FS=3.439;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.93;MQRankSum=-7.091;QD=12.08;ReadPosRankSum=1.29;SOR=0.972	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,73:173:99:0|1:75737092_C_T:2744,0,3959:75737092	0	0	10	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	18621.0	209	chr3	75737094	.	T	A	18621.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.506;DP=1548;ExcessHet=22.563;FS=4.367;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.04;MQRankSum=-7.138;QD=12.06;ReadPosRankSum=1.29;SOR=0.995	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,73:174:99:0|1:75737092_C_T:2761,0,4001:75737092	0	0	10	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	17689.0	206	chr3	75737105	.	T	A	17689.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.706;DP=1528;ExcessHet=22.563;FS=6.432;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.66;MQRankSum=-8.798;QD=11.61;ReadPosRankSum=0.99;SOR=1.146	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,71:173:99:0|1:75737092_C_T:2674,0,4069:75737092	0	0	10	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	15026.0	179	chr3	75737127	.	A	C	15026.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.995;DP=1458;ExcessHet=22.563;FS=6.735;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.36;MQRankSum=-9.527;QD=10.36;ReadPosRankSum=0.724;SOR=1.192	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,62:172:99:0|1:75737092_C_T:2272,0,4432:75737092	0	0	10	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	8633.98	146	chr3	75737163	.	CCTACATTCT	C	8633.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.329;DP=1221;ExcessHet=15.1594;FS=11.508;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.32;MQRankSum=-10.1;QD=8.13;ReadPosRankSum=-1.292;SOR=1.482	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,41:146:99:0|1:75737092_C_T:1406,0,4257:75737092	1	0	9	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	.	.	.	.	.	.	.	.	0.15	463.95	117	chr3	75737228	.	T	C	463.95	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.47;DP=1001;ExcessHet=0.7463;FS=19.425;InbreedingCoeff=-0.1905;MLEAC=3;MLEAF=0.15;MQ=57.66;MQRankSum=-8.581;QD=1.45;ReadPosRankSum=-2.284;SOR=2.9	GT:AD:DP:GQ:PL	0/1:98,8:106:41:41,0,4080	7	0	3	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	29055.0	242	chr3	75737519	.	G	A	29055.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.23;DP=1778;ExcessHet=22.563;FS=3.187;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.52;MQRankSum=-6.977;QD=17.01;ReadPosRankSum=0.822;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,120:223:99:.:.:4545,0,3782:.	0	0	10	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	33226.0	257	chr3	75737590	.	A	G	33226.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.639;DP=2000;ExcessHet=22.563;FS=0.523;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.83;MQRankSum=-11.54;QD=16.75;ReadPosRankSum=1.09;SOR=0.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,128:241:99:0|1:75737590_A_G:4946,0,4295:75737590	0	0	10	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	36674.0	275	chr3	75737608	.	T	C	36674.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.136;DP=2142;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.69;MQRankSum=-12.91;QD=17.15;ReadPosRankSum=0.045;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,142:260:99:0|1:75737590_A_G:5607,0,4527:75737590	0	0	10	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	37943.0	274	chr3	75737622	.	T	A	37943.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.327;DP=2188;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.99;MQRankSum=-12.64;QD=17.41;ReadPosRankSum=-0.408;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,152:263:99:0|1:75737590_A_G:6048,0,4203:75737590	0	0	10	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	36785.0	278	chr3	75737651	.	G	A	36785.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.29;DP=2144;ExcessHet=22.563;FS=1.096;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=54.76;MQRankSum=-11.17;QD=17.26;ReadPosRankSum=-0.326;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,142:247:99:0|1:75737590_A_G:5646,0,3981:75737590	0	0	10	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	34235.0	265	chr3	75737676	.	A	T	34235.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.48;DP=2005;ExcessHet=22.563;FS=1.748;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.4;MQRankSum=-9.806;QD=17.19;ReadPosRankSum=-0.156;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,136:233:99:0|1:75737590_A_G:5419,0,3664:75737590	0	0	10	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	.	.	.	.	.	.	.	.	0.5	17386.0	242	chr3	75737840	.	C	T	17386.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.182;DP=1956;ExcessHet=22.563;FS=9.369;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.03;MQRankSum=-4.376;QD=9.13;ReadPosRankSum=0.509;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,74:211:99:0|1:75737814_C_T:2642,0,5191:75737814	0	0	10	0
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	.	.	.	.	.	.	.	.	0.45	7087.02	239	chr3	75737881	.	T	C	7087.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.85;DP=1825;ExcessHet=15.1594;FS=14.307;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.68;MQRankSum=-7.284;QD=4.57;ReadPosRankSum=-3.421;SOR=1.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,42:177:99:0|1:75737881_T_C:1218,0,5335:75737881	1	0	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	5707.98	242	chr3	75737891	.	G	GAAAT	5707.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.2;DP=1739;ExcessHet=15.1594;FS=17.592;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.4;MQRankSum=-8.904;QD=3.76;ReadPosRankSum=-3.116;SOR=1.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,34:167:99:0|1:75737881_T_C:1001,0,5418:75737881	1	0	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	5470.98	235	chr3	75737893	.	A	ACTT	5470.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.239;DP=1724;ExcessHet=15.1594;FS=15.802;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.33;MQRankSum=-9.24;QD=3.64;ReadPosRankSum=-2.613;SOR=1.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,32:167:99:0|1:75737881_T_C:937,0,5482:75737881	1	0	9	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K,ZNF717:NM_001290208:exon5:c.G1615A:p.E539K,ZNF717:NM_001290209:exon5:c.G1465A:p.E489K,ZNF717:NM_001324027:exon5:c.G1615A:p.E539K	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	3887.02	246	chr3	75738008	.	C	T	3887.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.756;DP=2102;ExcessHet=15.1594;FS=4.482;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.35;MQRankSum=-11.6;QD=2.07;ReadPosRankSum=2.5;SOR=1.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,45:254:99:0|1:75737994_T_C:1260,0,8617:75737994	1	0	9	0
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F,ZNF717:NM_001290208:exon5:c.G1570T:p.V524F,ZNF717:NM_001290209:exon5:c.G1420T:p.V474F,ZNF717:NM_001324027:exon5:c.G1570T:p.V524F	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4	2285.98	232	chr3	75738053	.	C	A	2285.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.929;DP=1985;ExcessHet=10.3881;FS=3.371;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.37;MQRankSum=-10.29;QD=1.38;ReadPosRankSum=-1.279;SOR=1.156	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:208,25:233:99:0|1:75738051_G_T:424,0,8659:75738051	2	0	8	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	.	.	.	.	.	.	.	.	0.4	2104.98	122	chr3	75739165	.	C	T	2104.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.256;DP=1095;ExcessHet=10.3881;FS=18.333;InbreedingCoeff=-0.6665;MLEAC=8;MLEAF=0.4;MQ=56.69;MQRankSum=-7.997;QD=2.39;ReadPosRankSum=-0.323;SOR=1.354	GT:AD:DP:GQ:PL	0/1:100,21:121:99:315,0,2916	2	0	8	0
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	.	.	.	.	.	.	.	.	0.45	4366.02	105	chr3	75739283	.	G	T	4366.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.947;DP=845;ExcessHet=15.1594;FS=2.771;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=54.79;MQRankSum=-4.843;QD=5.88;ReadPosRankSum=0.209;SOR=0.934	GT:AD:DP:GQ:PL	0/1:57,42:99:99:863,0,1507	1	0	9	0
chr3	86968949	86968949	T	A	exonic	VGLL3	.	nonsynonymous SNV	VGLL3:NM_001320493:exon3:c.A578T:p.H193L,VGLL3:NM_001320494:exon3:c.A419T:p.H140L,VGLL3:NM_016206:exon3:c.A578T:p.H193L	.	402	1099	21	0	0	21	0.00946372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	.	0.0081	0.00379393	0.0074	0.0032	0.0036	0	0.0107	0.0098	0.0067	0.0054	0.007115	1100	154602	rs79345443	0.0098	0.0098	0.0100	0.0097	0.0113	0.0097	0.0096	0.0109	0.0108	0.0021	0.0049	0.0054	5.038e-05	0.0106	0.0113	0.0111	0.0086	0.0058	0.0074	0.0074	0.0073	0.0074	0.0108	0.0070	0.0069	0.0102	0.0099	0.0020	0.0164	0.0056	0.0052	0.0002	0.0116	0.0306	0.0108	0.0099	0.0058	0.004	0.68238	D	0.359	0.23164	T	0.41	0.35064	B	0.071	0.27960	B	0.000429	0.44522	D	0.154637	0.999985	0.54805	D	2.425	0.70256	M	0.88	0.47815	T	-4.36	0.76980	D	0.511	0.54234	-0.8835	0.49480	T	0.110	0.39699	T	10	0.008695096	0.00197	T	.	.	.	0.222	0.51872	.	.	0.276065633971	0.27208	0.5476830193202381	0.54694	0.400510994764	0.41053	0.588839530945	0.51330	T	0.154338	0.49559	T	-0.118266	0.33408	T	0.0653047	0.74597	D	0.0378037034534093	0.03297	T	0.849215	0.53152	T	0.3485719	0.56956	0.3174082	0.57715	0.3485719	0.56956	0.3174082	0.57715	-2.864	0.08788	T	.	.	0.117	0.27433	B	.;.	.;.	3.321003	0.45673	22.2	0.97824064956744039	0.36213	0.97110	0.72748	D	AEFBI	0.616044	0.60276	D	0.240166363538059	0.53154	3.485651	0.351726897792337	0.58611	4.032735	0.999999999999794	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	2.870000	0.48150	5.137000	0.47688	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	15.816	0.78379	606	0.67383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.010101	0.008152	0.020468	0.050000	0.000000	0.021341	0.015152	0.05	1315.43	35	chr3	86968949	.	T	A	1315.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=2.19;SOR=0.682	GT:AD:DP:GQ:PL	0/1:42,49:91:99:1327,0,1119	9	0	1	0
chr3	88135074	88135074	A	G	exonic	ZNF654	.	nonsynonymous SNV	ZNF654:NM_001350135:exon5:c.A568G:p.I190V,ZNF654:NM_001366096:exon5:c.A271G:p.I91V,ZNF654:NM_001350136:exon6:c.A271G:p.I91V,ZNF654:NM_001350137:exon6:c.A85G:p.I29V,ZNF654:NM_001366093:exon6:c.A271G:p.I91V,ZNF654:NM_001366095:exon6:c.A271G:p.I91V,ZNF654:NM_001366097:exon6:c.A85G:p.I29V,ZNF654:NM_001350134:exon7:c.A907G:p.I303V	.	457	1061	4	0	0	4	0.00188147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.00299866853179	.	0.00179712	0.0052	0.0045	0	0	0	0.0050	0	0.0064	0.0008344	129	154602	rs77487622	0.0048	0.0046	0.0049	0.0047	0.0055	0.0047	0.0047	0.0054	0.0053	0.0005	0.0019	0.0015	0	0.0034	0.0009	0.0055	0.0034	0.0021	0.0029	0.0029	0.0032	0.0026	0.0049	0.0027	0.0026	0.0045	0.0043	0.0009	0	0.0018	0.0006	0.0002	0.0025	0	0.0049	0.0033	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-0.4679	0.69798	T	0.271	0.64235	T	5	0.010813773	0.00239	T	0.002999	0.06427	T	.	.	.	.	.	.	0.1640201676248874	0.16322	.	.	.	.	.	0.019973	0.15809	T	.	.	.	.	.	.	.	.	.	0.89621	0.63821	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.23113	B	.	.	2.986694	0.39860	21.0	0.99867493975893795	0.94547	0.97263	0.73660	D	AEFGBI	0.505313	0.53652	D	0.217787367273531	0.52060	3.382803	0.28282450660899	0.54535	3.618344	0.999984875925178	0.51787	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	5.86	4.69	0.58546	3.093000	0.49912	9.300000	0.79866	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8628:0.1371:0.0:0.0	12.702	0.56407	264	0.89640	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1452.43	33	chr3	88135074	.	A	G	1452.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.384;DP=474;ExcessHet=0;FS=0.635;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.542;SOR=0.613	GT:AD:DP:GQ:PL	0/1:73,67:140:99:1464,0,1803	9	0	1	0
chr3	97872684	97872684	A	G	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.A1490G:p.Q497R	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.000599042	0.0003	0	0	0	0	0.0008	0	0.0001	0.0003622	56	154602	rs186224760	0.0027	0.0026	0.0028	0.0027	0.0029	0.0027	0.0026	0.0028	0.0028	0.0004	0.0011	0	0	0.0141	0.0002	0.0029	0.0019	0.0001	0.0025	0.0025	0.0020	0.0031	0.0026	0.0023	0.0023	0.0022	0.0021	0.0004	0.0055	0.0007	0	0	0.0166	0	0.0026	0.0028	0	.	.	.	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.13769	-1.0258	0.21821	T	0.054	0.22921	T	7	0.0047653317	0.00101	T	.	.	.	.	.	.	.	0.284539287134	0.28064	0.028066401063806905	0.02756	.	.	0.28538146615	0.08253	T	0.008229	0.07566	T	-0.547487	0.00302	T	-0.560993	0.16285	T	0.00749207485993609	0.00087	T	0.517048	0.16713	T	0.051096674	0.09334	0.12485802	0.30090	0.051096674	0.09334	0.12485802	0.30089	-4.252	0.27499	T	.	.	0.120	0.24901	B	.	.	2.215550	0.28270	17.74	0.99236417602391336	0.56405	0.43311	0.27070	N	AEFGBHCIJ	0.066597	0.13049	N	-0.571307608444905	0.19820	1.040346	-0.488578613780115	0.22467	1.220466	0.999992228857392	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.678554	0.66404	0	.	.	5.85	2.02	0.25641	1.513000	0.35430	1.196000	0.24801	0.756000	0.94297	0.370000	0.25924	0.536000	0.25389	0.855000	0.40485	0.6754:0.0:0.168:0.1567	3.846	0.08445	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	.	.	.	.	.	.	.	.	0.05	1965.43	33	chr3	97872684	.	A	G	1965.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.078;DP=620;ExcessHet=0;FS=1.988;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.644;SOR=0.85	GT:AD:DP:GQ:PL	0/1:75,83:158:99:1977,0,1939	9	0	1	0
chr3	98133457	98133460	CCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.760_763del:p.P254Ffs*31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0036	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.04e-05	0	0	5.047e-05	0	0	0.0002	0.0001	4.649e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2132.41	109	chr3	98133456	.	ACCCC	A	2132.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.678;DP=871;ExcessHet=0.7463;FS=369.503;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=6.58;ReadPosRankSum=1.63;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,29:84:99:0|1:98133456_ACCCC_A:686,0,2181:98133456	7	0	3	0
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2124.47	85	chr3	98133460	.	C	CGGGG	2124.47	.	AC=3;AF=0.5;AN=6;DP=740;ExcessHet=0.7463;FS=363.85;InbreedingCoeff=-0.4815;MLEAC=5;MLEAF=0.833;MQ=60;MQRankSum=0;QD=6.64;ReadPosRankSum=2.58;SOR=9.149	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,29:84:99:0|1:98133456_ACCCC_A:686,0,2181:98133456	0	0	3	7
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.45	1170.79	50	chr3	100775333	.	T	C	1170.79	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.379;DP=401;ExcessHet=15.1594;FS=290.87;InbreedingCoeff=-0.7983;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=3.26;ReadPosRankSum=0.5;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,9:56:10:.:.:10,0,958:.	1	0	9	0
chr3	100823462	100823464	TGT	-	exonic	ABI3BP	.	nonframeshift deletion	ABI3BP:NM_001377332:exon28:c.2173_2175del:p.T725del,ABI3BP:NM_001349330:exon31:c.2374_2376del:p.T792del,ABI3BP:NM_001365643:exon33:c.2536_2538del:p.T846del,ABI3BP:NM_001349329:exon34:c.2584_2586del:p.T862del,ABI3BP:NM_001375550:exon36:c.2755_2757del:p.T919del,ABI3BP:NM_001375547:exon37:c.2797_2799del:p.T933del,ABI3BP:NM_001375549:exon37:c.2797_2799del:p.T933del	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0	0	0	0	0.0003	0	0.0025	0.0001153	3	26028	rs753626741	0.0006	0.0006	0.0006	0.0007	0.0018	0.0006	0.0006	0.0015	0.0014	0.0003	2.82e-05	0	5.607e-05	2.953e-05	0.0005	0.0006	0.0005	0.0018	0.0003	0.0003	0.0004	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	4.811e-05	0.0022	0.0001	0	0	0	0	0.0005	0	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1671.39	34	chr3	100823461	.	ATGT	A	1671.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.821;DP=390;ExcessHet=0;FS=0.818;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.66;ReadPosRankSum=-0.656;SOR=0.556	GT:AD:DP:GQ:PL	0/1:40,45:85:99:1683,0,1545	9	0	1	0
chr3	108394107	108394107	C	T	exonic	MYH15	.	nonsynonymous SNV	MYH15:NM_014981:exon37:c.G5243A:p.R1748Q	.	419	1090	13	0	0	13	0.00592795	.	.	.	697740	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.121	.	0.0053	0.00379393	0.0085	0.0011	0.0027	0.0001	0.0224	0.0101	0.0122	0.0090	0.0079947	1236	154602	rs56118396	0.0073	0.0073	0.0072	0.0075	0.0103	0.0072	0.0072	0.0098	0.0095	0.0013	0.0021	0.0005	0.0001	0.0194	0.0031	0.0074	0.0062	0.0103	0.0062	0.0062	0.0058	0.0066	0.0086	0.0059	0.0057	0.0081	0.0078	0.0013	0.0143	0.0019	0.0009	0.0004	0.0199	0	0.0086	0.0024	0.0081	1.0	0.00964	T	1.0	0.01155	T	0.005	0.12996	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	-0.735	0.01762	N	-1.07	0.76948	T	2.16	0.00339	N	0.114	0.10198	-0.9384	0.42869	T	0.080	0.31795	T	9	0.004033953	0.00078	T	.	.	.	0.121	0.33580	.	.	0.260735089382	0.25697	0.04463529659902546	0.04407	0.0932311091372	0.10534	0.183556064963	0.00131	T	0.040009	0.25382	T	-0.602125	0.00142	T	-0.628292	0.10545	T	0.000304934806533025	0.00002	T	0.121088	0.00938	T	0.018657751	0.00388	0.042751234	0.05162	0.018657751	0.00388	0.042751234	0.05161	-0.025	0.00358	T	.	.	0.066	0.02091	B	.	.	-0.497752	0.01874	0.153	0.39174246166261367	0.02687	0.01390	0.04723	N	AEFBI	0.058089	0.10871	N	-1.88771121008546	0.00364	0.0156342	-1.79436086791697	0.00777	0.03467481	0.00152812571980073	0.08613	0.516011	0.20929	0	0.573888	0.26702	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.78	-3.55	0.04343	-0.016000	0.12550	-1.472000	0.05362	-1.939000	0.00492	0.000000	0.06391	0.000000	0.08366	0.609000	0.31615	0.1173:0.4811:0.0:0.4016	7.693	0.27745	316	0.87161	Myosin tail	.	.	.	.	rs56118396	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	0.005051	0.001359	0.008772	0.000000	0.008621	0.003049	0.000000	0.05	1004.43	35	chr3	108394107	.	C	T	1004.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.074;DP=381;ExcessHet=0;FS=0.95;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=0.953;SOR=0.506	GT:AD:DP:GQ:PL	0/1:27,41:68:99:1016,0,577	9	0	1	0
chr3	113655042	113655042	C	T	exonic	USF3	.	nonsynonymous SNV	USF3:NM_001009899:exon7:c.G6640A:p.A2214T	.	.	.	.	.	.	.	.	.	.	.	3489549	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.182	0.0104843920517	.	.	0.0001	0	0	0	0	0	0	0.0008	9.06e-05	14	154602	rs749437005	6.84e-05	6.84e-05	3.267e-05	0.0001	0.0011	5.713e-05	5.326e-05	0.0009	0.0009	0	0	0	0	0	0	0	4.967e-05	0.0011	5.91e-05	5.907e-05	1.285e-05	0.0001	0.0017	3.075e-05	2.209e-05	0.0008	0.0006	0	0	6.539e-05	0	0	0	0	0	0	0.0017	0.146	0.25055	T	0.262	0.22895	T	.	.	.	.	.	.	0.000043	0.53742	N	0.127978	0.99949	0.81001	D	.	.	.	2.17	0.19020	T	-0.33	0.12472	N	0.19	0.21580	-1.0368	0.18295	T	0.042	0.18035	T	10	0.038381398	0.02253	T	0.010484	0.27066	T	0.182	0.45420	0.149	0.05238	0.043077524339	0.03247	0.35593305602693043	0.35507	0.157523746145	0.17784	0.634809613228	0.57826	T	.	.	.	-0.33052	0.06073	T	-0.333051	0.41127	T	0.127567555321574	0.15155	T	0.788221	0.42759	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.17275	B	.;.	.;.	2.641276	0.34369	19.61	0.99721893733034861	0.82125	0.73685	0.36042	D	AEFDBCI	0.131679	0.25070	N	0.0976089924312948	0.46350	2.876798	0.164669938461187	0.47925	3.015501	0.0929058959941499	0.16169	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.57	4.69	0.58546	1.392000	0.34095	3.327000	0.37595	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.999000	0.91618	0.1466:0.7048:0.0:0.1486	6.535	0.21548	451	0.79296	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1756.43	34	chr3	113655042	.	C	T	1756.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.543;DP=464;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=0.386;SOR=0.668	GT:AD:DP:GQ:PL	0/1:74,71:145:99:1768,0,2044	9	0	1	0
chr3	115676196	115676196	G	C	exonic	GAP43	.	nonsynonymous SNV	GAP43:NM_002045:exon2:c.G214C:p.A72P,GAP43:NM_001130064:exon3:c.G322C:p.A108P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0138723661589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.164e-06	0.0001	6.814e-06	5.506e-06	0.0002	2.9e-06	2.1e-06	2.62e-06	1.69e-06	0	0	0	0	0	0.0002	6.304e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.48186	D	0.116	0.48594	T	0.371	0.34093	B	0.27	0.39872	B	0.026388	0.25927	N	0.380184	1	0.08975	N	1.935	0.51832	L	0.81	0.48460	T	-1.44	0.36385	N	0.115	0.13055	-0.9747	0.36191	T	0.114	0.40559	T	10	0.13199726	0.25123	T	0.013872	0.33594	T	0.066	0.19193	0.401	0.43081	0.482646159919	0.47895	0.13216878396780574	0.13141	0.27922568898	0.30403	0.315461575985	0.12734	T	0.20433	0.56307	T	-0.115191	0.33911	T	-0.403241	0.33007	T	0.650220215320587	0.38471	D	0.59824	0.32735	T	0.29186904	0.52166	0.3267469	0.58579	0.29186904	0.52166	0.3267469	0.58578	-5.243	0.39376	T	.	.	0.142	0.35247	B	.;.	.;.	2.241624	0.28623	17.86	0.9963283397870325	0.76142	0.37808	0.25845	N	AEFBI	0.528119	0.54978	D	-0.309158098030579	0.28799	1.591533	-0.403764697157965	0.24886	1.36534	1.52725511360971E-4	0.05650	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.542086	0.14980	0	.	.	4.62	3.74	0.42108	2.136000	0.41744	2.479000	0.32931	0.676000	0.76740	0.127000	0.23295	0.120000	0.22892	0.064000	0.16252	0.1644:0.1547:0.6809:0.0	6.183	0.19696	935	0.14827	Neuromodulin (GAP-43), C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	184.11	82	chr3	115676196	.	G	C	184.11	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.041;DP=817;ExcessHet=4.5998;FS=209.673;InbreedingCoeff=-0.4297;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=0.792;SOR=10.138	GT:AD:DP:GQ:PL	0/1:49,17:66:58:58,0,970	4	0	6	0
chr3	126414156	126414156	C	A	exonic	CFAP100	.	nonsynonymous SNV	CFAP100:NM_182628:exon4:c.C202A:p.Q68K	.	426	1056	40	0	0	40	0.0185874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0044	0.0229633	0.0146	0.0013	0.0209	0.0679	0.0042	0.0053	0.0099	0.0323	0.0134151	2074	154602	rs75744986	0.0084	0.0084	0.0076	0.0092	0.0691	0.0083	0.0082	0.0669	0.0661	0.0020	0.0174	0.0132	0.0691	0.0042	0.0208	0.0042	0.0097	0.0316	0.0076	0.0076	0.0063	0.0089	0.0573	0.0072	0.0071	0.0520	0.0499	0.0016	0	0.0101	0.0179	0.0573	0.0050	0.0238	0.0049	0.0076	0.0347	0.973	0.42199	T	1.0	0.92824	T	0.003	0.12996	B	0.003	0.12992	B	0.014644	0.28470	N	0.273357	0.999996	0.08975	N	.	.	.	1.69	0.27032	T	0.4	0.50992	N	0.184	0.24510	-0.9978	0.30535	T	0.004	0.01295	T	10	0.0015695989	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.11163472562439454	0.11092	0.127368391803	0.14354	0.353693246841	0.18464	T	0.001697	0.01120	T	-0.599402	0.00147	T	-0.581126	0.14445	T	0.0028673461894165	0.00030	T	0.637136	0.25071	T	0.11341133	0.26786	0.07550538	0.16630	0.11341133	0.26785	0.07550538	0.16629	-4.772	0.34263	T	.	.	0.077	0.35992	B	.;.;.	.;.;.	1.302801	0.17048	12.93	0.46730800028405128	0.03765	0.10915	0.16281	N	AEFDBI	0.038909	0.05575	N	-0.834420543527329	0.12436	0.6061978	-0.749092603680264	0.15745	0.8295878	4.17246019275348E-4	0.06899	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.6	1.35	0.21078	1.095000	0.30575	3.156000	0.36547	0.549000	0.26987	0.779000	0.29461	0.997000	0.33255	0.857000	0.40602	0.5528:0.4472:0.0:0.0	9.651	0.39064	864	0.32732	.;.;.	.	.	.	.	.	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	0.013595	0.000000	0.013587	0.011696	0.050000	0.025862	0.018293	0.022727	0.1	2661.14	33	chr3	126414156	.	C	A	2661.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.013;DP=552;ExcessHet=0.2348;FS=0.952;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=1.37;SOR=0.758	GT:AD:DP:GQ:PL	0/1:86,61:147:99:1548,0,2214	8	0	2	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	.	.	.	.	.	.	.	.	0.45	1586.91	59	chr3	128055734	.	T	C	1586.91	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.356;DP=621;ExcessHet=15.1594;FS=117.441;InbreedingCoeff=-0.8095;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=2.85;ReadPosRankSum=0.678;SOR=9.795	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,22:75:99:.:.:335,0,1009:.	1	0	9	0
chr3	130414129	130414129	C	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon22:c.C4759A:p.Q1587K,COL6A5:NM_153264:exon22:c.C4759A:p.Q1587K	.	426	1092	4	0	0	4	0.00182815	0.8203	0.566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.0932164748817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746024647	4.297e-06	4.788e-06	1.414e-06	7.258e-06	0.0002	1.55e-06	1.02e-06	7.4e-07	2.1e-07	0	0	0	0	2.03e-05	0.0002	2.787e-06	1.728e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.184	0.29056	T	.	.	.	.	.	.	.	.	.	.	0.979292	0.25191	N	.	.	.	-3.21	0.93291	D	-1.71	0.40660	N	0.283	0.32037	-0.2668	0.75899	T	0.648	0.87727	D	9	0.47370636	0.60016	T	0.093216	0.76033	D	0.401	0.71479	0.45	0.51121	0.552205712323	0.54877	0.4551588952909204	0.45433	0.201967781584	0.22611	0.371863365173	0.21099	T	0.337672	0.70703	T	0.0919442	0.63408	D	-0.105705	0.62953	T	0.682610094547272	0.39907	D	0.909209	0.67884	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12371	B	.	.	4.464694	0.69523	25.4	0.98484312254113004	0.42014	0.75420	0.36926	D	AEFBI	0.397867	0.47377	N	-0.102216163341842	0.37297	2.167833	0.0113489334197086	0.40240	2.398442	2.80486503935794E-4	0.06300	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.76	3.82	0.43153	2.160000	0.41975	4.799000	0.44955	0.599000	0.40250	0.991000	0.37257	1.000000	0.68203	0.837000	0.39485	0.0:0.8014:0.1986:0.0	10.384	0.43312	370	0.84343	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	880.43	38	chr3	130414129	.	C	A	880.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.779;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=-1.043;SOR=0.711	GT:AD:DP:GQ:PL	0/1:24,33:57:99:892,0,581	9	0	1	0
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E,COL6A5:NM_153264:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794	0.167130559847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.723514	0.33642	D	.	.	.	-6.28	0.99614	D	-5.87	0.88630	D	0.94	0.94668	1.094	0.99395	D	0.984	0.99521	D	9	0.985523	0.98809	D	0.167131	0.84557	D	0.794	0.93227	0.951	0.99428	0.644124591191	0.64118	0.9735298133118696	0.97341	0.262336419958	0.28795	0.683480918407	0.64769	T	0.416298	0.76929	T	0.521063	0.94919	D	0.510694	0.94844	D	0.997076034545898	0.90711	D	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79050	P	.	.	5.173918	0.86733	29.0	0.99152888611040157	0.53875	0.94007	0.59833	D	AEFBI	0.669031	0.63661	D	0.704442869841399	0.79923	7.181635	0.635508156860711	0.77535	6.698256	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1438.56	46	chr3	130421335	.	G	A	1438.56	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.907;DP=433;ExcessHet=8.3924;FS=407.622;InbreedingCoeff=-0.7391;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=4.31;ReadPosRankSum=0.501;SOR=9.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,22:56:99:0|1:130421335_G_A:427,0,901:130421335	3	0	4	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	.	.	.	.	.	.	.	.	0.4286	1438.09	47	chr3	130421337	.	T	C	1438.09	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.036;DP=426;ExcessHet=8.3924;FS=409.477;InbreedingCoeff=-0.7391;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.34;ReadPosRankSum=0.651;SOR=9.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,22:56:99:0|1:130421335_G_A:427,0,901:130421335	1	0	6	3
chr3	130431639	130431639	C	T	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon33:c.C5423T:p.S1808L,COL6A5:NM_153264:exon33:c.C5423T:p.S1808L	.	424	1088	9	1	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.00509935564762	.	0.000399361	0.0006	0	0.0024	0	0	0.0012	0	0	0.0001488	23	154602	rs190589491	0.0003	0.0003	0.0003	0.0003	0.0026	0.0003	0.0003	0.0016	0.0013	0.0003	0.0013	0.0040	0	2.029e-05	0.0026	0.0002	0.0008	6.311e-05	0.0006	0.0006	0.0005	0.0007	0.0031	0.0005	0.0005	0.0024	0.0022	7.222e-05	0	0.0031	0.0037	0	0	0.0034	0.0003	0.0009	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.227	0.25499	-1.0745	0.08452	T	0.061	0.25310	T	9	0.008110225	0.00184	T	0.005099	0.12939	T	0.127	0.34888	.	.	0.458013479912	0.45428	0.43176799453499254	0.43093	0.0380857293076	0.04044	0.38089299202	0.22383	T	0.204994	0.56392	T	-0.32302	0.06654	T	-0.266852	0.48137	T	0.0700507442460393	0.08658	T	0.734627	0.35069	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.20819	B	.	.	2.729505	0.35726	19.97	0.98996122607424919	0.50044	0.12116	0.17069	N	AEFBI	0.149072	0.27309	N	-0.228977574637814	0.31949	1.796715	-0.370033266689498	0.25895	1.426922	0.00433948822525192	0.10505	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.64	3.85	0.43556	0.907000	0.28154	2.190000	0.31200	0.599000	0.40250	0.000000	0.06391	0.871000	0.27593	0.103000	0.18424	0.0:0.7057:0.1404:0.1538	7.152	0.24790	369	0.84396	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2281.43	33	chr3	130431639	.	C	T	2281.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.319;DP=500;ExcessHet=0;FS=0.575;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=0.431;SOR=0.756	GT:AD:DP:GQ:PL	0/1:77,86:163:99:2293,0,2030	9	0	1	0
chr3	133811157	133811157	G	C	exonic	SRPRB	.	nonsynonymous SNV	SRPRB:NM_001379313:exon4:c.G368C:p.S123T,SRPRB:NM_021203:exon5:c.G368C:p.S123T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.016642363189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.17239	T	0.054	0.47097	T	0.942	0.52977	P	0.644	0.52249	P	0.000026	0.55875	D	0.155855	1	0.81001	D	2.305	0.65957	M	2.48	0.14657	T	-1.32	0.32991	N	0.492	0.52563	-1.1749	0.00450	T	0.063	0.26279	T	10	0.5695572	0.65242	D	0.016642	0.37992	T	0.158	0.41098	0.531	0.63855	0.700125190599	0.69753	0.5778745801934572	0.57716	0.287765702557	0.31178	0.546562790871	0.45372	T	0.044418	0.26811	T	-0.000832996	0.51538	T	-0.238973	0.50899	T	0.659820669470881	0.38888	D	0.668433	0.27736	T	0.10739064	0.25393	0.16899224	0.38901	0.10739064	0.25393	0.16899224	0.38900	-7.988	0.60989	D	.	.	0.221	0.45161	B	.	.	4.407465	0.68149	25.2	0.98109481766435624	0.38343	0.99441	0.96068	D	AEFBI	0.873379	0.79571	D	0.636013805060949	0.75467	6.31093	0.666844554068866	0.79870	7.174737	0.999999999997681	0.74766	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	7.265000	0.77842	9.797000	0.81675	-0.111000	0.15049	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.271	0.93996	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	.	.	.	.	.	.	.	.	0.1	177.65	36	chr3	133811157	.	G	C	177.65	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.617;DP=654;ExcessHet=0.2348;FS=228.829;InbreedingCoeff=-0.129;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=1.17;SOR=8.121	GT:AD:DP:GQ:PL	0/1:117,31:156:99:150,0,2294	8	0	2	0
chr3	151294198	151294198	G	A	exonic	GPR87	.	nonsynonymous SNV	GPR87:NM_023915:exon3:c.C1048T:p.R350C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0411650590243	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331356491	1.236e-05	1.437e-05	6.832e-06	1.794e-05	7.007e-05	7.73e-06	6.37e-06	3.013e-05	2.05e-05	0	2.253e-05	0	2.523e-05	1.874e-05	0	7.22e-06	1.662e-05	7.007e-05	1.973e-05	1.971e-05	2.571e-05	1.346e-05	0.0002	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.002	0.72154	D	0.007	0.69154	D	0.999	0.77913	D	0.948	0.68536	D	0.000186	0.48115	D	0.098474	1	0.81001	D	0	0.06538	N	-0.07	0.63738	T	-0.78	0.21644	N	0.597	0.61596	-0.4552	0.70228	T	0.250	0.61969	T	10	0.66804594	0.70545	D	0.041165	0.59779	D	0.247	0.55478	.	.	0.856099253768	0.85471	0.4279524815583126	0.42712	0.303414013437	0.32666	0.79935336113	0.81865	T	0.026206	0.19441	T	0.0219958	0.54650	T	-0.105551	0.62965	T	0.792742908000946	0.45869	D	0.90311	0.66064	D	0.21759374	0.44247	0.14785609	0.34973	0.21759374	0.44247	0.14785609	0.34973	-5.117	0.38086	T	.	.	0.449	0.62162	A	.	.	5.060451	0.84340	28.3	0.99930784289343044	0.99334	0.99577	0.97626	D	AEFBI	0.883870	0.81313	D	0.528983493859718	0.68813	5.268908	0.574466726987938	0.73114	5.917929	0.999999999985948	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.24	5.24	0.72863	7.824000	0.84838	11.675000	0.94150	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	0.0:0.0:1.0:0.0	18.793	0.91949	807	0.43470	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	736.43	37	chr3	151294198	.	G	A	736.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.332;DP=808;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=0.802;SOR=0.652	GT:AD:DP:GQ:PL	0/1:49,32:81:99:748,0,1199	9	0	1	0
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R,SLC33A1:NM_001363883:exon1:c.C353G:p.P118R,SLC33A1:NM_004733:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	1833.49	139	chr3	155853645	.	G	C	1833.49	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-3.101;DP=1064;ExcessHet=4.5998;FS=169.181;InbreedingCoeff=-0.4661;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.03;ReadPosRankSum=1.44;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,11:93:99:.:.:246,0,2646:.	3	0	6	1
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	.	.	.	.	.	.	.	.	0.1	148.14	75	chr3	160404347	.	T	C	148.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.969;DP=472;ExcessHet=0.2348;FS=141.343;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=1.98;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,11:59:44:0|1:160404346_G_C:44,0,1563:160404346	8	0	2	0
chr3	182945111	182945111	T	C	exonic	DCUN1D1	.	nonsynonymous SNV	DCUN1D1:NM_001308101:exon7:c.A718G:p.K240E,DCUN1D1:NM_020640:exon7:c.A763G:p.K255E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.00419115776246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.37326	T	0.084	0.41239	T	0.262	0.31549	B	0.08	0.28873	B	0.000000	0.84330	D	0.043215	0.999994	0.58761	D	2.125	0.59049	M	.	.	.	-1.81	0.42575	N	0.453	0.52563	-0.7886	0.55811	T	0.223	0.58729	T	9	0.23855856	0.40979	T	0.004191	0.10089	T	0.313	0.63482	0.182	0.09004	0.564436246954	0.56107	0.3325625777151116	0.33169	1.20666199656	0.80720	0.768774628639	0.77241	T	0.056508	0.30306	T	0.0999902	0.64292	D	-0.0941475	0.63848	T	0.634441143879164	0.37802	D	0.881612	0.60121	D	0.82129544	0.85307	0.70887744	0.82831	0.82129544	0.85309	0.70887744	0.82832	-5.728	0.43942	T	.	.	0.240	0.49769	B	.;.;.	.;.;.	4.271155	0.64981	24.8	0.99521621500792379	0.69284	0.99593	0.97790	D	AEBI	0.878050	0.80307	D	0.208639416148252	0.51616	3.341551	0.366147588349887	0.59486	4.126894	0.999999996103556	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	7.497000	0.80382	7.888000	0.72886	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.359	0.83084	835	0.38313	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	760.43	33	chr3	182945111	.	T	C	760.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.59;DP=387;ExcessHet=0;FS=2.075;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=1.68;SOR=0.439	GT:AD:DP:GQ:PL	0/1:37,29:66:99:772,0,905	9	0	1	0
chr3	193643030	193643030	G	A	exonic	OPA1	.	nonsynonymous SNV	OPA1:NM_130831:exon10:c.G1013A:p.G338D,OPA1:NM_015560:exon11:c.G1121A:p.G374D,OPA1:NM_130832:exon11:c.G1067A:p.G356D,OPA1:NM_130833:exon11:c.G1124A:p.G375D,OPA1:NM_001354663:exon12:c.G752A:p.G251D,OPA1:NM_001354664:exon12:c.G749A:p.G250D,OPA1:NM_130834:exon12:c.G1175A:p.G392D,OPA1:NM_130835:exon12:c.G1178A:p.G393D,OPA1:NM_130836:exon12:c.G1232A:p.G411D,OPA1:NM_130837:exon13:c.G1286A:p.G429D	Behr syndrome, Autosomal recessive;Optic atrophy 1, Autosomal dominant;Optic atrophy plus syndrome, Autosomal dominant	43	1476	3	0	0	3	0.00101523	.	.	.	888567	not_specified|Inborn_genetic_diseases|not_provided|Autosomal_dominant_optic_atrophy_classic_form	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500,Orphanet:98673	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.895	0.629151544098	7.7e-05	.	4.203e-05	0	8.74e-05	0	0	3.064e-05	0	0.0001	3.23e-05	5	154602	rs146003075	3.011e-05	3.01e-05	2.179e-05	3.852e-05	0.0005	2.283e-05	2.033e-05	0.0001	7.544e-05	0	0.0001	3.827e-05	0	0	0.0005	1.17e-05	0.0002	0.0001	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	0.005	0.65419	D	0.011	0.64786	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.57	0.75187	M	-3.86	0.95891	D	-6.35	0.90976	D	0.768	0.91852	1.066	0.98481	D	0.932	0.97747	D	10	0.9226336	0.91615	D	0.629152	0.96810	D	0.895	0.97022	.	.	0.84301341986	0.84151	0.7696190488440139	0.76910	1.6492091948	0.89517	0.898623526096	0.96286	D	0.706701	0.98989	D	0.206018	0.74456	D	0.294823	0.87954	D	0.719375789165497	0.41667	D	0.967253	0.89126	D	0.74595124	0.80634	0.82695144	0.89986	0.74595124	0.80635	0.82695144	0.89987	-11.024	0.82884	D	0.4165608229464354	0.50598	0.214	0.53679	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.415712	0.90628	31	0.99837555852513593	0.91886	0.99357	0.94965	D	AEFBI	0.930203	0.91714	D	0.953256455108821	0.94113	12.512	0.912170017999131	0.96082	14.28175	0.999999999986262	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	9.588000	0.97390	11.844000	0.97886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	16.585	0.84577	958	0.09170	Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain|Dynamin, GTPase domain;.;.;Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain|Dynamin, GTPase domain;Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain|Dynamin, GTPase domain;.;Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain|Dynamin, GTPase domain;Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain|Dynamin, GTPase domain;.;.;Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain|Dynamin, GTPase 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	0.05	288.43	37	chr3	193643030	.	G	A	288.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.682;DP=302;ExcessHet=0;FS=5.076;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.394;SOR=0.081	GT:AD:DP:GQ:PL	0/1:11,11:22:99:300,0,352	9	0	1	0
chr3	195725265	195725265	C	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.C662T:p.P221L,MUC20:NM_020790:exon3:c.C548T:p.P183L	.	1227	268	12	15	0	42	0.0726644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0279939078184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1178367301	0.0039	0.0022	0.0035	0.0042	0.0229	0.0036	0.0034	0.0194	0.0181	0	0.0229	0.0016	0.0004	0.0035	0	0.0017	0.0016	0.0098	0.0909	0.0077	0	0.1667	0.2500	0.0162	0.0068	.	.	.	.	0.2500	.	0	0.5000	.	0	.	.	0.935	0.05501	T	0.009	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.97	0.13795	T	-0.71	0.20145	N	0.071	0.04426	-0.9482	0.41279	T	0.016	0.06473	T	5	0.0043722987	0.00089	T	0.027994	0.50737	D	0.012	0.01476	0.268	0.21576	.	.	0.08169079549289465	0.08104	.	.	.	.	.	0.002482	0.09657	T	-0.314255	0.07379	T	-0.689182	0.06436	T	0.0349274069218366	0.02795	T	.	.	.	0.046044763	0.07641	0.13236813	0.31765	0.046044763	0.07640	0.13236813	0.31764	-7.122	0.54919	T	.	.	0.357	0.69288	A	.;.;.	.;.;.	0.983081	0.13607	10.14	0.97336882581047512	0.33452	0.00384	0.01939	N	AEFI	0.051030	0.08975	N	-0.961609506576599	0.09433	0.4464343	-1.14477772820503	0.06862	0.3317746	1.15960121852374E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	1.090000	0.30514	0.659000	0.20486	0.196000	0.17891	0.011000	0.18532	0.001000	0.17328	0.019000	0.11356	.	.	.	851	0.35303	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3571	868.97	2	chr3	195725265	.	C	T	868.97	.	AC=5;AF=0.357;AN=14;BaseQRankSum=2.29;DP=65;ExcessHet=0;FS=7.901;MLEAC=7;MLEAF=0.5;MQ=29.22;MQRankSum=0.981;QD=23.49;ReadPosRankSum=0.655;SOR=4.743	GT:AD:DP:GQ:PL	1/1:0,13:13:39:376,39,0	4	2	1	3
chr3	195778916	195778920	CGTGA	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	10722.6	312	chr3	195778916	.	CGTGA	*	10722.6	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.03;DP=3562;ExcessHet=1.5895;FS=3.651;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=55.65;MQRankSum=2.28;QD=7.86;ReadPosRankSum=12.57;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:265,30:295:99:.:.:497,0,10779:.	9	0	1	0
chr3	195778917	195778917	G	0	exonic	MUC4	.	.	.	.	505	587	363	23	44	453	0.25837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	6257.75	303	chr3	195778917	.	G	*	6257.75	.	AC=4;AF=0.286;AN=14;BaseQRankSum=5.28;DP=4148;ExcessHet=0.1398;FS=2.47;InbreedingCoeff=0.1246;MLEAC=5;MLEAF=0.357;MQ=56.28;MQRankSum=1.44;QD=3.81;ReadPosRankSum=3.97;SOR=0.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:265,30:295:99:.:.:497,0,10779:.	3	0	4	3
chr3	195778920	195778965	ACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCG	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	2269.8	379	chr3	195778920	.	ACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCG	*	2269.8	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.037;DP=4144;ExcessHet=0.2348;FS=1.512;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.063;MQ=53.7;MQRankSum=3.52;QD=3.37;ReadPosRankSum=12.72;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:265,30:295:99:.:.:497,0,10779:.	7	0	1	2
chr3	195778921	195778965	CCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCG	0	exonic	MUC4	.	.	.	.	428	1020	58	0	16	74	0.0276454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	7637.75	379	chr3	195778921	.	CCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCG	*	7637.75	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.395;DP=4407;ExcessHet=1.5895;FS=2.098;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.1;MQ=55.25;MQRankSum=4.93;QD=4.67;ReadPosRankSum=14.74;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:265,30:295:99:.:.:497,0,10779:.	8	0	2	0
chr3	195778940	195779084	TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	439	913	123	0	47	170	0.0631093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	7302.69	315	chr3	195778940	.	TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	*	7302.69	.	AC=3;AF=0.167;AN=18;BaseQRankSum=3.25;DP=4473;ExcessHet=0.0135;FS=0.519;InbreedingCoeff=0.4302;MLEAC=3;MLEAF=0.167;MQ=54.24;MQRankSum=2.17;QD=4.36;ReadPosRankSum=-1.015;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:265,30:295:99:.:.:497,0,10779:.	6	0	3	1
chr3	195783383	195783383	C	0	exonic	MUC4	.	.	.	.	697	686	76	62	1	201	0.127226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	269.64	183	chr3	195783383	.	C	*	269.64	.	AC=7;AF=0.583;AN=12;BaseQRankSum=4.08;DP=1386;ExcessHet=0.0125;FS=5.095;InbreedingCoeff=0.1822;MLEAC=9;MLEAF=0.75;MQ=47.74;MQRankSum=0.566;QD=0.61;ReadPosRankSum=-0.842;SOR=0.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,46:46:99:1|1:195783346_A_G:1863,133,0:195783346	2	3	1	4
chr3	195783896	195783896	-	AAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.7683_7684insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.L2561_P2562insSVTDTSSVSTGHATPLHVTSPSSASTGHATPL,MUC4:NM_001322468:exon7:c.7635_7636insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.S2547_A4615delinsVTDTSSVSTGHATPLHVTSPSSASTGHATPLSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	442	951	27	0	102	129	0.0139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.0029	0.0045	0	0	0.0049	0.0090	0.0027	0.0004916	76	154602	.	0.0040	0.0071	0.0039	0.0042	0.0239	0.0039	0.0039	0.0196	0.0180	0.0026	0.0060	0.0070	0	0.0071	0.0239	0.0037	0.0065	0.0041	0.0018	0.0063	0.0021	0.0015	0.0024	0.0016	0.0015	0.0021	0.0020	0.0010	0.0026	0.0024	0.0003	0	0.0015	0	0.0024	0.0012	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	27926.1	463	chr3	195783896	.	G	GAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	27926.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.176;DP=5220;ExcessHet=2.8389;FS=0.604;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=54.7;MQRankSum=-5.849;QD=15.1;ReadPosRankSum=-8.49;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:175,148:329:99:.:.:7981,0,5370:.	5	0	5	0
chr3	195785732	195785732	-	GTCACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAACAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGC	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.5847_5848insGCCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTGTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTGAC:p.H1949_T1950insATSLPVTDASSVSTGHATSVPVTIPSSASSGD,MUC4:NM_001322468:exon6:c.5847_5848insGCCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTGTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTGAC:p.S1950_A4615delinsATSLPVTDASSVSTGHATSVPVTIPSSASSGDSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	425	1062	9	0	26	35	0.00421941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0006	0	0	.	.	.	.	0.0015	0.0025	0.0014	0.0016	0.0094	0.0014	0.0014	0.0069	0.0060	0.0012	0.0012	0.0025	0	0.0033	0.0094	0.0014	0.0019	0.0016	0.0001	0.0002	3.884e-05	0.0003	0.0002	9.084e-05	7.337e-05	0.0001	7.695e-05	0.0002	0	9.632e-05	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	9384.16	687	chr3	195785732	.	T	TGTCACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAACAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGC	9384.16	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.63;DP=6283;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=56.42;MQRankSum=-13.02;QD=6.86;ReadPosRankSum=-3.896;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:240,1:243:99:.:.:4376,0,9217:.	8	0	2	0
chr3	195788016	195788016	-	GTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.3563_3564insCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCGATGCTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTGCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCAC:p.S1189_P1190insLSSVSTGDTTPLLVTDASSASTGQATPLPVTSPSSASTGDTTPLPVTS,MUC4:NM_001322468:exon4:c.3563_3564insCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCGATGCTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTGCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCAC:p.G1189_A4615delinsSLSSVSTGDTTPLLVTDASSASTGQATPLPVTSPSSASTGDTTPLPVTGHTTPLPVTDTSSASTGHATSLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASTGDTTPLPVTDTSSASTGQDTPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSASTGQATPLPVTGPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHTTSLHVTSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	584	914	19	4	1	28	0.0145553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0621	0.0037	0	0.0008	0.0019	0	0	.	.	.	.	0.0004	0.0015	0.0005	0.0003	0.0049	0.0003	0.0003	0.0038	0.0034	0.0049	0.0004	0.0012	0	0.0002	0.0013	0.0003	0.0010	7.675e-05	2.706e-05	0.0006	0	5.548e-05	.	0	0	.	.	0	0	0	0.0009	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4260.43	99	chr3	195788016	.	A	AGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG	4260.43	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.458;DP=765;ExcessHet=0.3476;FS=31.766;InbreedingCoeff=0.092;MLEAC=2;MLEAF=0.143;MQ=37.93;MQRankSum=1.79;QD=17.68;ReadPosRankSum=-8.864;SOR=3.387	GT:AD:DP:GQ:PL	0/1:60,52:112:99:1918,0,1907	5	0	2	3
chr3	195868341	195868341	C	T	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001308046:exon12:c.G2008A:p.V670M,TNK2:NM_001382271:exon12:c.G2008A:p.V670M,TNK2:NM_005781:exon12:c.G1912A:p.V638M,TNK2:NM_001010938:exon13:c.G2029A:p.V677M,TNK2:NM_001382272:exon13:c.G2029A:p.V677M,TNK2:NM_001382273:exon13:c.G1957A:p.V653M,TNK2:NM_001382274:exon13:c.G1957A:p.V653M,TNK2:NM_001382275:exon13:c.G2053A:p.V685M	.	422	1076	20	4	0	28	0.012844	.	.	.	94418	Parkinson_disease|Autosomal_recessive_infantile_epilepsy|TNK2-related_disorder|not_provided|Infantile_epilepsy	MONDO:MONDO:0005180,MeSH:D010300,MedGen:C0030567,OMIM:PS168600,Orphanet:319705|MedGen:CN183915|.|MedGen:C3661900|MedGen:CN228296	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.176	.	0.0006	0.00259585	0.0026	0.0006	0.0005	0.0002	0.0002	0.0011	0	0.0131	0.0020957	324	154602	rs201407161	0.0018	0.0018	0.0015	0.0021	0.0127	0.0017	0.0017	0.0120	0.0118	0.0004	0.0004	0.0042	5.051e-05	0	0.0047	0.0011	0.0019	0.0127	0.0012	0.0012	0.0010	0.0015	0.0158	0.0011	0.0010	0.0129	0.0119	0.0003	0	0.0005	0.0038	0.0004	0	0.0068	0.0011	0	0.0158	0.008	0.91255	D	0.073	0.69154	T	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999986	0.58761	D	1.83	0.48079	L	0.88	0.46028	T	-1.2	0.39503	N	0.629	0.69125	-0.7690	0.56912	T	0.196	0.55056	T	10	0.0081579685	0.00185	T	.	.	.	0.176	0.44373	.	.	0.854392572695	0.85299	0.3547871407071696	0.35392	0.0339664126179	0.03563	0.844016313553	0.88707	D	0.085562	0.49683	T	-0.351641	0.04624	T	-0.266854	0.48137	T	0.0236500075346051	0.01102	T	0.982402	0.94055	D	0.3188963	0.54547	0.3603234	0.61476	0.3188963	0.54547	0.3603234	0.61475	-9.791	0.72650	D	.	.	0.606	0.71047	P	.;.;.;.	.;.;.;.	4.594960	0.72715	25.9	0.99885676477360807	0.96049	0.98998	0.89743	D	AEFDBI	0.879804	0.80600	D	0.642321751471934	0.75873	6.383469	0.649361750741026	0.78564	6.901514	0.999999999993842	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.53	5.53	0.82530	4.628000	0.60981	5.947000	0.51581	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.627000	0.32078	0.0:1.0:0.0:0.0	18.017	0.89169	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	0.007056	0.000000	0.001359	0.008772	0.050000	0.025862	0.003067	0.018939	0.05	1942.43	73	chr3	195868341	.	C	T	1942.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.22;DP=550;ExcessHet=0;FS=1.345;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-2.531;SOR=0.825	GT:AD:DP:GQ:PL	0/1:65,75:140:99:1954,0,1387	9	0	1	0
chr4	2941692	2941692	G	A	exonic	NOP14	.	nonsynonymous SNV	NOP14:NM_001291978:exon15:c.C2089T:p.R697C,NOP14:NM_001291979:exon15:c.C2089T:p.R697C,NOP14:NM_003703:exon15:c.C2089T:p.R697C	.	404	1092	26	0	0	26	0.0117647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	.	0.0032	0.00878594	0.0088	0.0005	0.0044	0.0019	0.0106	0.0077	0.0092	0.0248	0.007736	1196	154602	rs61740573	0.0062	0.0062	0.0057	0.0067	0.0298	0.0061	0.0060	0.0261	0.0247	0.0018	0.0044	0.0296	0.0008	0.0102	0.0298	0.0045	0.0080	0.0204	0.0055	0.0055	0.0048	0.0061	0.0236	0.0052	0.0050	0.0201	0.0188	0.0010	0	0.0046	0.0328	0.0015	0.0100	0.0170	0.0051	0.0118	0.0236	0.015	0.58626	D	0.003	0.79402	D	1.0	0.90584	D	0.91	0.66185	D	0.000073	0.52346	D	0.124363	0.52763	0.31517	N	3.055	0.86842	M	1.46	0.32238	T	-4.09	0.75375	D	0.475	0.51315	-0.5549	0.66599	T	0.138	0.45526	T	10	0.0066779554	0.00151	T	.	.	.	0.213	0.50496	.	.	0.527809512145	0.52428	0.4969263051077896	0.49613	0.4632225215	0.45833	0.259536594152	0.04836	T	0.070444	0.33961	T	-0.400888	0.02284	T	-0.331705	0.41280	T	0.0351601588212269	0.02836	T	0.926207	0.72857	D	0.25870398	0.48920	0.1932095	0.42877	0.25870398	0.48920	0.1932095	0.42876	-7.67	0.58799	D	.	.	0.087	0.23148	B	.;.;.;.	.;.;.;.	4.515894	0.70766	25.6	0.99881421728566111	0.95733	0.70493	0.34613	D	AEFDBHCI	0.141967	0.26429	N	0.29330149020774	0.55808	3.744946	0.141584442563453	0.46698	2.911595	0.999999848330045	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.67	3.81	0.43020	1.589000	0.36253	6.314000	0.55434	0.676000	0.76740	0.982000	0.35529	0.998000	0.33993	0.016000	0.10718	0.0:0.0:0.6387:0.3613	13.313	0.59830	624	0.65661	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027273	0.025773	0.033967	0.035088	0.100000	0.051724	0.018405	0.003788	0.05	765.43	38	chr4	2941692	.	G	A	765.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.23;DP=402;ExcessHet=0;FS=3.459;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=1.07;SOR=1.239	GT:AD:DP:GQ:PL	0/1:34,31:65:99:777,0,691	9	0	1	0
chr4	3444042	3444057	CCCTGGATCCCTGTGC	-	exonic	HGFAC	.	frameshift deletion	HGFAC:NM_001297439:exon5:c.479_494del:p.L161Pfs*81,HGFAC:NM_001528:exon5:c.479_494del:p.L161Pfs*81	.	395	1072	55	0	0	55	0.0250114	.	.	.	2822368	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0037	0.0003	0.0019	0	0.0038	0.0038	0.0096	0.0094	0.0005379	14	26028	rs562047823	0.0024	0.0026	0.0020	0.0028	0.0232	0.0023	0.0023	0.0200	0.0187	0.0003	0.0024	0.0083	5.055e-05	0.0039	0.0232	0.0016	0.0042	0.0086	0.0023	0.0023	0.0020	0.0026	0.0081	0.0021	0.0021	0.0061	0.0054	0.0003	0	0.0046	0.0066	0	0.0042	0.0238	0.0022	0.0038	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	168.39	33	chr4	3444041	.	GCCCTGGATCCCTGTGC	G	168.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.98;DP=304;ExcessHet=0;FS=1.826;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.61;ReadPosRankSum=0;SOR=1.329	GT:AD:DP:GQ:PL	0/1:24,6:30:99:180,0,990	9	0	1	0
chr4	6709563	6709563	C	T	exonic	MRFAP1L1	.	nonsynonymous SNV	MRFAP1L1:NM_203462:exon1:c.G67A:p.D23N	.	420	1067	34	1	0	36	0.0165899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0032	0.00479233	0.0058	0.0007	0.0010	0.0001	0.0014	0.0045	0.0055	0.0220	0.0053686	830	154602	rs141796381	0.0048	0.0048	0.0042	0.0053	0.0211	0.0047	0.0046	0.0203	0.0200	0.0007	0.0022	0.0140	0	0.0019	0.0205	0.0037	0.0051	0.0211	0.0034	0.0034	0.0032	0.0036	0.0166	0.0032	0.0031	0.0136	0.0126	0.0005	0	0.0039	0.0138	0.0006	0.0014	0.0204	0.0041	0.0057	0.0166	0.016	0.51853	D	0.0	0.92824	D	0.989	0.62824	D	0.866	0.61580	P	.	.	.	.	0.99428	0.23550	N	1.04	0.26193	L	.	.	.	-3.99	0.73893	D	0.4	0.44090	-1.0563	0.12698	T	0.106	0.38661	T	8	0.006687075	0.00152	T	.	.	.	0.091	0.26358	.	.	0.220303561663	0.21668	0.14553496378892716	0.14476	0.878159353935	0.69656	0.72418653965	0.70658	T	0.178239	0.52882	T	-0.551785	0.00285	T	-0.549121	0.17410	T	0.023983776895619	0.01143	T	0.888311	0.61778	D	0.3356027	0.55927	0.36901194	0.62180	0.3356027	0.55927	0.36901194	0.62180	-4.581	0.31932	T	.	.	0.877	0.81307	P	.	.	4.391097	0.67767	25.1	0.99818339770976816	0.90150	0.31398	0.24327	N	ALL	0.116110	0.22801	N	0.140459011898612	0.48361	3.049304	0.0471173455523818	0.41933	2.527646	0.999999999999767	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	2.72	2.72	0.31179	2.229000	0.42634	2.424000	0.32701	0.445000	0.21165	0.999000	0.42656	0.881000	0.27706	0.281000	0.24041	0.0:1.0:0.0:0.0	9.127	0.35985	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	0.013595	0.010101	0.009511	0.023392	0.000000	0.034483	0.009146	0.015152	0.05	1669.43	38	chr4	6709563	.	C	T	1669.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.27;DP=449;ExcessHet=0;FS=1.479;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.023;SOR=0.882	GT:AD:DP:GQ:PL	0/1:62,61:123:99:1681,0,1584	9	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	.	.	.	.	.	.	.	.	0.45	2133.02	152	chr4	6862306	.	T	C	2133.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.47;DP=1244;ExcessHet=15.1594;FS=225.654;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=1.2;SOR=11.543	GT:AD:DP:GQ:PL	0/1:106,31:137:99:146,0,2479	1	0	9	0
chr4	8227654	8227654	C	T	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.C1732T:p.R578W,SH3TC1:NM_018986:exon12:c.C1960T:p.R654W	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.199094447475	0.0020	0.00119808	0.0025	0.0003	0.0009	0.0005	0.0044	0.0030	0.0061	0.0028	0.0020181	312	154602	rs143156603	0.0027	0.0027	0.0026	0.0028	0.0029	0.0026	0.0026	0.0028	0.0027	0.0005	0.0009	0.0030	7.696e-05	0.0040	0.0017	0.0029	0.0022	0.0027	0.0020	0.0020	0.0020	0.0020	0.0029	0.0018	0.0018	0.0025	0.0024	0.0007	0	0.0007	0.0035	0.0002	0.0046	0.0068	0.0029	0.0009	0.0023	0.053	0.38863	T	0.089	0.40426	T	0.027	0.19556	B	0.019	0.18783	B	0.142116	0.18254	N	0.539872	0.999701	0.20909	N	1.195	0.30194	L	-0.43	0.69657	T	-4.94	0.81835	D	0.181	0.19593	-0.9771	0.35660	T	0.185	0.53481	T	10	0.011574805	0.00252	T	0.199094	0.86632	D	0.200	0.48430	.	.	0.462200489575	0.45844	0.5092638575096742	0.50848	0.0271289346676	0.02770	0.386989951134	0.23245	T	0.051619	0.28930	T	-0.476178	0.00779	T	-0.460451	0.26549	T	0.0141301882724852	0.00276	T	0.511449	0.16356	T	0.055430505	0.10772	0.075712375	0.16697	0.055430505	0.10771	0.075712375	0.16697	-2.938	0.09528	T	.	.	0.073	0.04477	B	.	.	-0.517110	0.01813	0.142	0.67960163728057144	0.08512	0.35986	0.25429	N	AEFDBCI	0.343698	0.43943	N	-1.87150240733808	0.00393	0.01688169	-1.99697812497855	0.00311	0.01372018	0.999999999564945	0.74766	0.489673	0.17934	0	0.71359	0.82159	0	0.578056	0.29568	0	0.636168	0.56350	0	.	.	4.16	-8.32	0.00873	0.351000	0.19834	-1.129000	0.06244	-3.736000	0.00063	0.405000	0.26210	0.000000	0.08366	0.001000	0.02609	0.1983:0.4809:0.0603:0.2604	4.473	0.11139	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	0.005045	0.000000	0.004087	0.000000	0.000000	0.000000	0.006135	0.018939	0.05	1056.43	71	chr4	8227654	.	C	T	1056.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.849;DP=581;ExcessHet=0;FS=0.917;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.312;SOR=0.844	GT:AD:DP:GQ:PL	0/1:28,42:70:99:1068,0,685	9	0	1	0
chr4	13602381	13602381	T	C	exonic	BOD1L1	.	nonsynonymous SNV	BOD1L1:NM_148894:exon10:c.A4519G:p.T1507A	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	.	.	0.00319489	0.0023	0	8.687e-05	0	0	1.503e-05	0	0.0169	0.0019857	307	154602	rs200912665	0.0009	0.0009	0.0006	0.0013	0.0154	0.0009	0.0009	0.0147	0.0144	2.987e-05	4.472e-05	0	5.038e-05	0	0.0010	5.396e-06	0.0007	0.0154	0.0004	0.0004	0.0003	0.0006	0.0133	0.0004	0.0003	0.0107	0.0097	0	0	0.0001	0	0.0002	0	0	0	0.0005	0.0133	0.929	0.02256	T	0.172	0.30241	T	0.0	0.02946	B	0.001	0.04355	B	0.235754	0.03549	N	1.592130	1	0.08975	N	-0.6	0.02229	N	3.11	0.08194	T	-0.05	0.07736	N	0.027	0.00571	-0.9558	0.39952	T	0.011	0.04274	T	10	0.002976656	0.00048	T	.	.	.	0.002	0.00045	0.184	0.09259	0.0675242888579	0.06100	0.09269440287045645	0.09201	0.0457679641949	0.04968	0.234481781721	0.02315	T	0.009146	0.08348	T	-0.744505	0.00019	T	-0.829233	0.01276	T	0.00442392337037783	0.00047	T	0.237376	0.03328	T	0.10197152	0.24092	0.030716535	0.01562	0.10197152	0.24092	0.030716535	0.01562	-3.424	0.15381	T	.	.	0.07	0.03479	B	.	.	-1.285140	0.00451	0.009	0.26684279354294516	0.01290	0.04549	0.10187	N	AEFGBCI	0.019036	0.00626	N	-1.36609782803814	0.02962	0.1315726	-1.32271734437742	0.04138	0.1945392	0.996523328275045	0.34806	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.23	0.47	0.15957	-0.286000	0.08433	-4.677000	0.02038	-0.870000	0.02561	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.3786:0.0:0.6214	8.177	0.30446	612	0.66786	.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1978.43	34	chr4	13602381	.	T	C	1978.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.232;DP=688;ExcessHet=0;FS=0.595;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-1.048;SOR=0.785	GT:AD:DP:GQ:PL	0/1:80,75:155:99:1990,0,2183	9	0	1	0
chr4	15004125	15004125	-	GGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGG:p.F488Gfs*67,CPEB2:NM_001177382:exon1:c.1452_1453insGGGGGGGGGG:p.F488Gfs*67,CPEB2:NM_001177383:exon1:c.1452_1453insGGGGGGGGGG:p.F488Gfs*67,CPEB2:NM_001177384:exon1:c.1452_1453insGGGGGGGGGG:p.F488Gfs*67,CPEB2:NM_182485:exon1:c.1452_1453insGGGGGGGGGG:p.F488Gfs*67,CPEB2:NM_182646:exon1:c.1452_1453insGGGGGGGGGG:p.F488Gfs*67	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0022	0.0001	0.0001	0.0004	9.798e-05	9.293e-05	0.0002	0.0001	0.0002	0.0001	0.0003	0.0003	8.488e-05	0.0004	0.0001	0.0001	2.583e-05	2.663e-05	0.0003	3.899e-05	1.365e-05	.	8.22e-06	5.19e-06	.	.	0	0	0	0	0	0.0004	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	92.39	48	chr4	15004125	.	C	CGGGGGGGGGG	92.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.414;DP=412;ExcessHet=0;FS=37.749;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=-2.586;SOR=4.16	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,7:44:99:0|1:15004125_C_CGGGGGGGGGG:104,0,1533:15004125	9	0	1	0
chr4	15688006	15688006	G	A	exonic	FAM200B	.	nonsynonymous SNV	FAM200B:NM_001145191:exon2:c.G1029A:p.M343I	.	446	1073	3	0	0	3	0.001396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	.	0.00119808	0.0048	0	0	0	0	0	0	0.0119	0.0006856	106	154602	rs572986501	0.0008	0.0007	0.0004	0.0011	0.0128	0.0007	0.0007	0.0122	0.0119	3.167e-05	0	0	0	0	0.0002	4.636e-06	0.0009	0.0128	0.0003	0.0003	7.712e-05	0.0006	0.0097	0.0002	0.0002	0.0075	0.0067	0	0	0	0	0.0002	0	0	0	0	0.0097	0.014	0.53172	D	0.316	0.19362	T	0.149	0.27956	B	0.195	0.36592	B	.	.	.	.	0.999899	0.19781	N	0.755	0.19153	N	-1.86	0.84341	D	-1.41	0.34795	N	0.296	0.33469	-0.6572	0.62399	T	0.414	0.76129	T	8	0.0069901645	0.00159	T	.	.	.	0.099	0.28413	0.377	0.39156	0.20549828249	0.20151	0.10978011155804851	0.10907	.	.	0.398772597313	0.24898	T	0.004577	0.03988	T	-0.336549	0.05630	T	-0.245175	0.50292	T	0.0219147171541908	0.00899	T	0.514149	0.16548	T	0.17323945	0.38061	0.17455687	0.39860	0.17323945	0.38060	0.17455687	0.39859	-2.085	0.03520	T	.	.	0.221	0.45433	B	.;.	.;.	1.445048	0.18651	13.85	0.96499830933056441	0.30037	0.19842	0.20816	N	AEFDBI	.	.	.	-0.473887982008467	0.22938	1.228352	-0.463908761119565	0.23156	1.261313	0.999727479268837	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	2.36	1.5	0.22029	1.031000	0.29773	0.866000	0.22272	0.614000	0.49286	0.934000	0.32416	0.000000	0.08366	0.981000	0.58702	0.1787:0.0:0.8213:0.0	4.906	0.13151	542	0.72843	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1194.43	34	chr4	15688006	.	G	A	1194.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.823;DP=427;ExcessHet=0;FS=2.662;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=1.51;SOR=1.048	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1206,0,1479	9	0	1	0
chr4	53461044	53461044	-	AA	splicing	LNX1	NM_001126328:exon11:c.2052-2->TT;NM_032622:exon10:c.1764-2->TT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0076	0.00599042	0.0051	0.0216	0.0024	0.0020	0	0.0005	0.0030	0.0172	0.0003074	8	26028	rs60909872	0.0028	0.0069	0.0024	0.0032	0.0273	0.0027	0.0027	0.0255	0.0248	0.0273	0.0027	0.0014	0.0044	0.0003	0.0055	0.0009	0.0043	0.0185	0.0060	0.0060	0.0059	0.0060	0.0200	0.0057	0.0055	0.0189	0.0184	0.0200	0	0.0026	0	0	0.0001	0	7.6e-05	0.0050	0.0036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1015.77	29	chr4	53461044	.	T	TAA	1015.77	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.96;DP=341;ExcessHet=1.5895;FS=9.894;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.667;SOR=1.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,12:29:99:0|1:53461044_T_TAA:318,0,626:53461044	9	0	1	0
chr4	56314535	56314535	A	G	exonic	CRACD	.	nonsynonymous SNV	CRACD:NM_020722:exon8:c.A1033G:p.R345G	.	356	1124	39	3	0	45	0.0196249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0033	0.00678914	0.0128	0.0012	0.0152	0	0.02	0.0157	0.0147	0.0141	0.003758	581	154602	rs181288707	0.0101	0.0097	0.0100	0.0101	0.0316	0.0099	0.0099	0.0271	0.0254	0.0025	0.0093	0.0059	0	0.0023	0.0316	0.0112	0.0099	0.0071	0.0085	0.0085	0.0083	0.0087	0.0159	0.0081	0.0080	0.0142	0.0136	0.0023	0.0518	0.0159	0.0081	0	0.0013	0.0621	0.0114	0.0162	0.0077	0.012	0.54683	D	0.247	0.23984	T	0.96	0.55278	D	0.643	0.52216	P	.	.	.	.	1	0.08975	N	0.895	0.22405	L	4.52	0.01997	T	-2.69	0.58407	D	0.076	0.06990	-0.8846	0.49390	T	0.005	0.01506	T	9	0.004870236	0.00104	T	.	.	.	0.050	0.13987	.	.	0.193865811164	0.18958	0.04833071238415083	0.04776	0.351719312492	0.37009	0.401592552662	0.25290	T	0.013176	0.25379	T	-0.607411	0.00131	T	-0.634249	0.10094	T	0.0371497133714363	0.03182	T	0.513749	0.25428	T	0.15109834	0.34367	0.23682012	0.48963	0.15109834	0.34366	0.23682012	0.48962	-8.088	0.61669	D	.	.	0.164	0.48837	B	.;.;.;.;.	.;.;.;.;.	0.432212	0.08027	4.745	0.8199269451612442	0.13964	0.38591	0.26023	N	AEFDBCI	0.196794	0.32375	N	-0.471405951265528	0.23022	1.23333	-0.612543006750399	0.19170	1.027386	0.999877986188953	0.44625	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.97	1.2	0.20181	-1.893000	0.01700	-5.867000	0.01570	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7855:0.0:0.2145:0.0	8.674	0.33327	283	0.88803	.;.;.;.;.	.	.	.	.	.	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	0.040919	0.011111	0.042056	0.032051	0.000000	0.037037	0.043919	0.045833	0.1	946.12	24	chr4	56314535	.	A	G	946.12	.	AC=2;AF=0.1;AN=20;DP=209;ExcessHet=0;FS=0;InbreedingCoeff=0.9996;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.52;SOR=0.756	GT:AD:DP:GQ:PL	1/1:0,31:31:93:969,93,0	9	1	0	0
chr4	82426558	82426558	C	G	exonic	HNRNPDL	.	nonsynonymous SNV	HNRNPDL:NM_031372:exon6:c.G1097C:p.G366A	Muscular dystrophy, limb-girdle, type 1G, Autosomal dominant	438	1083	1	0	0	1	0.000461467	.	.	.	691625	Autosomal_dominant_limb-girdle_muscular_dystrophy_type_1G	MONDO:MONDO:0012193,MedGen:C1836765,OMIM:609115,Orphanet:55596	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.304	0.0509305838735	.	0.000199681	0.0004	0	0	0.0037	0	1.499e-05	0	0.0013	0.0003752	58	154602	rs200123403	0.0002	0.0002	0.0001	0.0002	0.0035	0.0002	0.0002	0.0030	0.0028	0	0	0	0.0035	1.877e-05	0	9.9e-06	0.0002	0.0011	0.0001	0.0001	3.855e-05	0.0002	0.0025	7.573e-05	6.278e-05	0.0015	0.0012	0	0	0	0	0.0025	0	0	0	0	0.0010	0.08	0.33585	T	0.016	0.60972	D	0.093	0.25333	B	0.012	0.16012	B	0.000012	0.62929	D	0.111132	0.821797	0.81001	D	1.48	0.37141	L	-2.29	0.87591	D	-1.67	0.39887	N	0.457	0.49420	-0.3093	0.74725	T	0.473	0.79779	T	10	0.013842881	0.00292	T	0.050931	0.64450	D	0.304	0.62510	.	.	0.794866231817	0.79295	0.782699162966229	0.78220	0.958394088486	0.72909	0.637438774109	0.58200	T	0.123599	0.44808	T	-0.292344	0.09402	T	-0.195129	0.55108	T	0.038196925423996	0.03366	T	0.787321	0.42620	T	0.19485313	0.41251	0.1964123	0.43370	0.19485313	0.41251	0.1964123	0.43369	-6.671	0.51592	T	.	.	0.150	0.33110	B	.;.;.;.;.	.;.;.;.;.	3.825547	0.55270	23.6	0.97479853157685437	0.34183	0.90454	0.51643	D	AEFBCI	0.607451	0.59741	D	0.0663192455911651	0.44897	2.755468	0.271067350157503	0.53856	3.552716	0.999999999836489	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	5.74	5.74	0.90070	4.565000	0.60552	5.969000	0.51963	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8641:0.1359:0.0	15.731	0.77571	907	0.22727	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	640.43	34	chr4	82426558	.	C	G	640.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.622;DP=384;ExcessHet=0;FS=0.908;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=0.808;SOR=0.679	GT:AD:DP:GQ:PL	0/1:42,29:71:99:652,0,1126	9	0	1	0
chr4	83322350	83322350	C	T	exonic	HPSE	.	nonsynonymous SNV	HPSE:NM_001098540:exon2:c.G242A:p.R81H,HPSE:NM_001199830:exon2:c.G242A:p.R81H,HPSE:NM_001166498:exon3:c.G242A:p.R81H,HPSE:NM_006665:exon3:c.G242A:p.R81H	.	.	.	.	.	.	.	.	.	.	.	2332413	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.195	0.00586626494846	.	.	3.363e-05	0	0	0	0	6.13e-05	0	0	2.59e-05	4	154602	rs781393849	2.33e-05	2.326e-05	2.591e-05	2.066e-05	0.0005	1.677e-05	1.48e-05	0.0001	7.557e-05	0	0	0	2.522e-05	0	0.0005	2.34e-05	1.659e-05	3.502e-05	3.942e-05	3.937e-05	6.427e-05	1.344e-05	6.545e-05	1.715e-05	1.129e-05	1.972e-05	1.125e-05	0	0	6.545e-05	0	0	0	0.0034	5.881e-05	0	0	0.575	0.36310	T	0.542	0.20944	T	0.841	0.46518	P	0.15	0.34161	B	0.000017	0.62929	D	0.108156	0.999573	0.50061	D	2.325	0.66631	M	1.51	0.30937	T	-1.99	0.46842	N	0.447	0.48504	-1.0344	0.19046	T	0.146	0.47038	T	10	0.23784736	0.40893	T	0.005866	0.15251	T	0.195	0.47612	.	.	0.29385284311	0.29004	0.7299972075096315	0.72944	0.143957075891	0.16256	0.658267557621	0.61162	T	0.462359	0.79875	T	0.00360027	0.52151	T	-0.0634767	0.66089	T	0.381172388792038	0.28227	T	0.886911	0.62461	D	0.3282794	0.55329	0.14449091	0.34303	0.3282794	0.55329	0.14449091	0.34303	-9.424	0.74145	D	.	.	0.167	0.47955	B	.;.;.;.	.;.;.;.	3.800441	0.54757	23.5	0.99925762907645499	0.99042	0.87594	0.47185	D	AEFGBI	0.432665	0.49445	N	0.339769963859747	0.58202	3.991105	0.405176377397033	0.61885	4.39524	0.999999998800366	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.695668	0.68540	0	.	.	5.34	5.34	0.75982	2.228000	0.42625	0.987000	0.23166	0.597000	0.34315	0.936000	0.32490	0.440000	0.24899	0.993000	0.69303	0.1504:0.8496:0.0:0.0	14.095	0.64540	783	0.47268	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1013.43	35	chr4	83322350	.	C	T	1013.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.344;DP=382;ExcessHet=0;FS=2.188;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-0.76;SOR=0.418	GT:AD:DP:GQ:PL	0/1:32,40:72:99:1025,0,720	9	0	1	0
chr4	86762995	86762995	G	T	exonic	PTPN13	.	nonsynonymous SNV	PTPN13:NM_080684:exon21:c.G3249T:p.W1083C,PTPN13:NM_006264:exon23:c.G3765T:p.W1255C,PTPN13:NM_080683:exon24:c.G3822T:p.W1274C,PTPN13:NM_080685:exon24:c.G3822T:p.W1274C	.	0	1512	9	1	0	11	0.00362438	.	.	.	1037521	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.120	0.0194470382253	0.0031	0.00139776	0.0038	0.0008	0.0021	0.0002	0.0058	0.0050	0.0022	0.0035	0.0036416	563	154602	rs201633051	0.0046	0.0046	0.0045	0.0046	0.0051	0.0045	0.0044	0.0050	0.0049	0.0006	0.0027	0.0006	0	0.0056	0.0038	0.0051	0.0037	0.0037	0.0037	0.0037	0.0039	0.0035	0.0055	0.0034	0.0033	0.0051	0.0049	0.0010	0	0.0024	0.0006	0	0.0070	0.0102	0.0055	0.0033	0.0037	0.02	0.49613	D	0.093	0.39799	T	0.966	0.64738	D	0.717	0.54822	P	0.057491	0.22477	N	0.325863	0.999781	0.49076	D	2.2	0.62015	M	0.73	0.50721	T	-1.94	0.49684	N	0.473	0.51048	-0.8848	0.49373	T	0.180	0.52705	T	10	0.010404646	0.00232	T	0.019447	0.41815	T	0.120	0.33359	0.199	0.11247	0.718839793265	0.71636	0.2960224735570662	0.29515	0.0546384430823	0.06044	0.378156244755	0.21993	T	0.081482	0.36608	T	-0.369855	0.03601	T	-0.301574	0.44560	T	0.0164710960281549	0.00412	T	0.931507	0.74506	D	0.21074873	0.43380	0.20590806	0.44781	0.21074873	0.43380	0.20590806	0.44780	-3.858	0.25966	T	.	.	0.357	0.59126	A	.;.;.;.;.	.;.;.;.;.	4.554744	0.71721	25.7	0.98515566237893126	0.42398	0.90404	0.51553	D	AEFBI	0.501295	0.53419	D	0.508590542387105	0.67595	5.102804	0.531277398498122	0.70105	5.456587	0.519911948366889	0.21088	0.634777	0.41761	0	0.546412	0.12157	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	5.15	5.15	0.70287	3.823000	0.55415	9.621000	0.81106	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.848:0.152	13.932	0.63510	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	0	0	1	0	0.002518	0.010101	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1206.43	45	chr4	86762995	.	G	T	1206.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.127;DP=465;ExcessHet=0;FS=2.558;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=1.21;SOR=0.454	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1218,0,1566	9	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5581.44	43	chr4	87615730	.	ATAG	*	5581.44	.	AC=8;AF=0.4;AN=20;DP=390;ExcessHet=0;FS=2.751;InbreedingCoeff=0.6078;MLEAC=8;MLEAF=0.4;MQ=58.11;QD=19.52;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,9:15:99:0|1:87615730_ATAG_A:1057,249,224:87615730	4	2	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4265.86	19	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	4265.86	.	AC=8;AF=0.4;AN=20;DP=428;ExcessHet=0;FS=2.751;InbreedingCoeff=0.6078;MLEAC=8;MLEAF=0.4;MQ=57.76;QD=20.22;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,9:15:99:0|1:87615730_ATAG_A:1043,238,251:87615730	4	2	4	0
chr4	87615923	87615924	CA	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	1074	227	3	1	217	222	0.0108932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	443.54	16	chr4	87615923	.	CA	*	443.54	.	AC=10;AF=0.714;AN=14;DP=237;ExcessHet=0;FS=1.018;InbreedingCoeff=0.5238;MLEAC=12;MLEAF=0.857;MQ=50.57;QD=3.33;SOR=0.856	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,6:13:21:.:.:258,21,0:.	1	4	2	3
chr4	87615925	87615936	GTGACAGCAGCA	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	1073	228	3	1	217	222	0.010846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	443.54	16	chr4	87615925	.	GTGACAGCAGCA	*	443.54	.	AC=10;AF=0.714;AN=14;DP=237;ExcessHet=0;FS=1.018;InbreedingCoeff=0.5238;MLEAC=12;MLEAF=0.857;MQ=50.57;QD=3.33;SOR=0.856	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,6:13:21:.:.:258,21,0:.	1	4	2	3
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	2341.51	12	chr4	87615936	.	A	*	2341.51	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.37;DP=206;ExcessHet=0;FS=1.176;InbreedingCoeff=0.5238;MLEAC=5;MLEAF=0.357;MQ=52.77;MQRankSum=-2.984;QD=19.04;ReadPosRankSum=-1.078;SOR=0.995	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,6:10:99:0|1:87615883_A_G:400,164,144:87615883	4	1	2	3
chr4	87982879	87982879	T	G	exonic	SPP1	.	nonsynonymous SNV	SPP1:NM_001251829:exon5:c.T805G:p.S269A,SPP1:NM_000582:exon6:c.T886G:p.S296A,SPP1:NM_001040060:exon6:c.T847G:p.S283A,SPP1:NM_001040058:exon7:c.T928G:p.S310A,SPP1:NM_001251830:exon8:c.T967G:p.S323A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0244222823685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.0	0.92824	D	0.989	0.62824	D	0.859	0.61184	P	0.000370	0.45194	D	0.099263	0.544296	0.32080	D	2.175	0.60977	M	0.83	0.47815	T	-2.23	0.50012	N	0.45	0.53445	-0.4930	0.68902	T	0.241	0.60929	T	10	0.55175084	0.64295	D	0.024422	0.47408	T	0.231	0.53208	0.575	0.69957	0.909837518767	0.90893	0.09036833743925907	0.08969	0.354020575304	0.37190	0.404117554426	0.25642	T	0.347089	0.71526	T	-0.085944	0.38743	T	-0.361229	0.37910	T	0.963194012641907	0.66587	D	0.739226	0.38090	T	0.31291234	0.54037	0.26579604	0.52417	0.31291234	0.54037	0.26579604	0.52416	-5.351	0.40640	T	.	.	0.141	0.31048	B	.;.;.;.	.;.;.;.	4.239112	0.64256	24.7	0.9960039175833606	0.74160	0.82939	0.42102	D	AEFGBI	0.545947	0.56025	D	0.527703777878107	0.68734	5.258139	0.51446755416131	0.68961	5.293083	0.999661688606312	0.41534	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.8	5.8	0.92081	3.573000	0.53600	7.864000	0.71599	0.652000	0.53365	0.819000	0.29975	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	12.527	0.55439	620	0.66037	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	649.43	35	chr4	87982879	.	T	G	649.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.154;DP=408;ExcessHet=0;FS=2.572;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=0.959;SOR=1.111	GT:AD:DP:GQ:PL	0/1:47,25:72:99:661,0,1397	9	0	1	0
chr4	89248723	89248723	A	G	exonic	GPRIN3	.	nonsynonymous SNV	GPRIN3:NM_198281:exon2:c.T1388C:p.L463P	.	432	1086	3	1	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0002	0.00698882	0.0042	0	0.0004	0.0005	0	0.0001	0.0044	0.0297	0.0036739	568	154602	rs151231128	0.0018	0.0018	0.0010	0.0026	0.0278	0.0018	0.0017	0.0269	0.0265	8.961e-05	8.944e-05	0	0.0004	1.872e-05	0.0026	8.004e-05	0.0021	0.0278	0.0009	0.0009	0.0005	0.0013	0.0257	0.0008	0.0007	0.0220	0.0207	4.813e-05	0	0	0	0.0010	0	0	5.88e-05	0.0009	0.0257	0.108	0.29420	T	0.323	0.18959	T	0.012	0.16265	B	0.006	0.12133	B	0.783641	0.06669	N	1.183400	0.999985	0.18198	N	0.975	0.24501	L	2.65	0.12676	T	-0.67	0.19297	N	0.106	0.10198	-0.9602	0.39143	T	0.016	0.06711	T	10	0.0023795068	0.00035	T	.	.	.	0.015	0.02232	.	.	0.0138822411134	0.00435	0.10690090498556341	0.10620	0.0600706684607	0.06680	0.278780698776	0.07323	T	0.003473	0.02879	T	-0.693168	0.00040	T	-0.746152	0.03638	T	0.00469239226640054	0.00050	T	0.335866	0.07168	T	0.047295425	0.08062	0.076753885	0.17030	0.047295425	0.08061	0.076753885	0.17030	-3.361	0.14537	T	.	.	0.075	0.07460	B	.;.	.;.	0.473282	0.08429	5.185	0.90898581102564713	0.20147	0.02745	0.07425	N	AEFDBI	0.062074	0.11910	N	-1.12306451680512	0.06234	0.2864517	-1.16467511038423	0.06509	0.3135067	0.999978954908935	0.50053	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.89	-3.02	0.05116	-0.508000	0.06426	0.350000	0.17468	0.756000	0.94297	0.031000	0.20493	0.006000	0.19429	0.023000	0.12082	0.1894:0.1341:0.3172:0.3593	1.080	0.01539	906	0.23090	.;.	.	.	.	.	.	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	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.05	1938.43	71	chr4	89248723	.	A	G	1938.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.297;DP=613;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=1.06;SOR=0.705	GT:AD:DP:GQ:PL	0/1:87,83:170:99:1950,0,2330	9	0	1	0
chr4	89894979	89894979	G	A	exonic	MMRN1	.	nonsynonymous SNV	MMRN1:NM_007351:exon1:c.G8A:p.G3E,MMRN1:NM_001371403:exon2:c.G8A:p.G3E	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.146556525103	.	.	5.146e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs752635655	2.539e-05	2.531e-05	9.548e-06	4.142e-05	0.0004	1.873e-05	1.636e-05	0.0003	0.0003	0	0	0	0	0	0	1.803e-06	1.662e-05	0.0004	6.574e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.007	0.59928	D	0.019	0.59159	D	0.931	0.51899	P	0.36	0.43183	B	0.530047	0.11648	N	0.746399	0.999994	0.08975	N	1.895	0.50365	L	-0.77	0.73523	T	-0.93	0.24898	N	0.094	0.07535	-0.3065	0.74804	T	0.576	0.84707	D	10	0.108300924	0.20155	T	0.146557	0.82866	D	0.282	0.59981	0.437	0.48993	0.723002516678	0.72055	0.31694802863923477	0.31607	0.0347088691901	0.03653	0.330532371998	0.15015	T	0.046072	0.27314	T	-0.292353	0.09400	T	-0.32772	0.41722	T	0.182919197269042	0.19418	T	0.540046	0.18281	T	0.071418785	0.15810	0.117080055	0.28264	0.071418785	0.15810	0.117080055	0.28263	-4.563	0.31703	T	.	.	0.115	0.28086	B	.;.	.;.	1.374821	0.17855	13.41	0.97255930338226593	0.33066	0.07313	0.13335	N	AEFGBHCI	0.073978	0.14813	N	-0.403281954864039	0.25353	1.375702	-0.510478014462162	0.21869	1.185061	0.999999830206987	0.74766	0.730579	0.87903	0	0.159064	0.03852	3	0.624306	0.44879	0	0.648885	0.59868	0	.	.	4.91	0.973	0.18829	0.170000	0.16476	1.372000	0.25964	-0.105000	0.15698	0.098000	0.22752	0.962000	0.29361	0.983000	0.59808	0.0:0.5791:0.4209:0.0	14.886	0.70202	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	.	.	.	.	.	.	.	.	0.05	857.43	33	chr4	89894979	.	G	A	857.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.196;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=1.63;SOR=0.76	GT:AD:DP:GQ:PL	0/1:44,34:78:99:869,0,1204	9	0	1	0
chr4	95131343	95131343	A	C	exonic	BMPR1B	.	nonsynonymous SNV	BMPR1B:NM_001256792:exon8:c.A907C:p.K303Q,BMPR1B:NM_001256793:exon8:c.A997C:p.K333Q,BMPR1B:NM_001256794:exon8:c.A907C:p.K303Q,BMPR1B:NM_001203:exon10:c.A907C:p.K303Q	Acromesomelic dysplasia, Demirhan type, Autosomal recessive;Brachydactyly, type A1, D, Autosomal dominant;Brachydactyly, type A2, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1376154	Type_A2_brachydactyly|Acromesomelic_dysplasia_3	Human_Phenotype_Ontology:HP:0009372,MONDO:MONDO:0007216,MedGen:C1832702,OMIM:112600,Orphanet:93396|MONDO:MONDO:0012274,MedGen:C4225404,OMIM:609441	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.141	0.0192395095665	7.7e-05	.	1.65e-05	0	8.718e-05	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs370428276	9.577e-06	9.577e-06	1.089e-05	8.251e-06	2.238e-05	5.56e-06	4.35e-06	5.31e-06	3.88e-06	0	2.238e-05	0	0	0	0	9.892e-06	3.312e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-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	0.062	0.37326	T	0.188	0.36365	T	0.031	0.20130	B	0.046	0.24676	B	0.000023	0.55875	D	0.155411	0.999931	0.51612	D	0.585	0.15399	N	-0.25	0.67011	T	-1.73	0.41428	N	0.528	0.55713	-0.7886	0.55811	T	0.225	0.58970	T	10	0.26701647	0.44210	T	0.01924	0.41549	T	0.141	0.37795	.	.	0.507503701284	0.50389	0.598408955270661	0.59771	0.120582729042	0.13580	0.666827082634	0.62385	T	0.530854	0.83763	D	-0.104548	0.35671	T	-0.280296	0.46774	T	0.239438027143478	0.22393	T	0.940906	0.77861	D	0.53165466	0.68925	0.42066032	0.66022	0.53165466	0.68926	0.42066032	0.66022	-6.252	0.48485	T	.	.	0.096	0.15385	B	.;.;.;.;.	.;.;.;.;.	3.693859	0.52643	23.3	0.99125268097376951	0.53116	0.90203	0.51196	D	AEFBI	0.321075	0.42399	N	0.0375268748538349	0.43569	2.647309	0.240221320156252	0.52094	3.386741	0.999997568801636	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	6.06	6.06	0.98340	3.451000	0.52727	11.271000	0.91406	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	16.609	0.84711	565	0.70868	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Protein kinase domain;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic 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	.	.	.	.	.	.	.	.	0.05	2243.43	34	chr4	95131343	.	A	C	2243.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.69;DP=517;ExcessHet=0;FS=3.96;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=1.31;SOR=0.749	GT:AD:DP:GQ:PL	0/1:111,95:206:99:2255,0,2822	9	0	1	0
chr4	99307859	99307859	C	T	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon9:c.G1109A:p.R370H,ADH1B:NM_001286650:exon10:c.G989A:p.R330H	.	418	1078	25	1	0	27	0.0123683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.0231445045486	0.0041	0.00259585	0.0032	0.0037	0.0015	0.0007	0.0002	0.0037	0.0077	0.0042	0.0029624	458	154602	rs75967634	0.0031	0.0031	0.0029	0.0033	0.0049	0.0030	0.0030	0.0045	0.0043	0.0032	0.0011	0.0011	0.0006	0.0006	0.0049	0.0033	0.0026	0.0048	0.0032	0.0032	0.0033	0.0032	0.0044	0.0030	0.0029	0.0038	0.0036	0.0034	0.0033	0.0012	0.0006	0.0008	0.0010	0	0.0042	0.0024	0.0044	0.0	0.91255	D	0.006	0.70582	D	.	.	.	.	.	.	0.000034	0.55875	D	0.068332	1	0.81001	D	.	.	.	3.38	0.05778	T	-4.29	0.76414	D	0.362	0.69825	-0.9198	0.45581	T	0.063	0.26314	T	10	0.014936537	0.00314	T	0.023145	0.46094	T	0.218	0.51265	.	.	0.491248951702	0.48758	0.7890051812966327	0.78852	0.783653125193	0.65405	0.413478672504	0.26938	T	0.09467	0.39463	T	-0.408097	0.02047	T	-0.358987	0.38171	T	0.102206649897578	0.12598	T	0.89971	0.64861	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.75992	P	.;.;.;.	.;.;.;.	4.038986	0.59786	24.1	0.99854316575898061	0.93368	0.95068	0.63321	D	AEFI	0.877816	0.80268	D	0.423228588699053	0.62703	4.490509	0.189106407762688	0.49249	3.130397	0.00271159252284801	0.09654	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.08	3.08	0.34576	4.824000	0.62391	2.694000	0.34110	0.520000	0.23804	1.000000	0.71638	0.993000	0.31925	0.045000	0.14751	0.0:1.0:0.0:0.0	10.315	0.42911	622	0.65860	Polyketide synthase, enoylreductase domain;.;.;Polyketide synthase, enoylreductase 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	0.004757	0.000000	0.001359	0.012295	0.050000	0.000000	0.006098	0.003788	0.05	3670.43	36	chr4	99307859	.	C	T	3670.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.063;DP=629;ExcessHet=0;FS=1.386;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.752;SOR=0.782	GT:AD:DP:GQ:PL	0/1:140,156:296:99:3682,0,3239	9	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	.	.	.	.	.	.	.	.	0.4	1544.91	130	chr4	99318097	.	C	G	1544.91	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-2.498;DP=1449;ExcessHet=10.3881;FS=281.803;InbreedingCoeff=-0.6704;MLEAC=7;MLEAF=0.35;MQ=59.99;MQRankSum=0;QD=1.5;ReadPosRankSum=-0.079;SOR=11.983	GT:AD:DP:GQ:PL	0/1:95,57:152:99:389,0,1461	2	0	8	0
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1384.73	96	chr4	99347057	.	C	G	1384.73	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.852;DP=1202;ExcessHet=4.5998;FS=272.732;InbreedingCoeff=-0.4818;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.14;ReadPosRankSum=-0.703;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,44:145:99:.:.:275,0,1106:.	3	0	6	1
chr4	102911453	102911453	C	T	exonic	SLC9B1	.	nonsynonymous SNV	SLC9B1:NM_001100874:exon8:c.G914A:p.R305Q,SLC9B1:NM_139173:exon8:c.G914A:p.R305Q	.	602	909	8	3	0	14	0.00764192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0017218355093	.	.	0.0017	0.0021	0.0019	0.0026	0.0003	0.0017	0	0.0011	0.0022639	350	154602	rs200795458	9.344e-05	0.0016	9.162e-05	9.527e-05	0.0005	8.043e-05	7.507e-05	0.0003	0.0003	6.046e-05	0.0002	0.0005	2.542e-05	5.164e-05	0.0005	4.524e-05	0.0003	0.0004	0.0002	0.0033	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0005	0	0.0006	0.0002	0	0.0002	0.0015	0.0002	0.575	0.06106	T	0.558	0.15157	T	0.041	0.24734	B	0.024	0.20255	B	0.715366	0.09980	N	0.875838	1	0.08975	N	0.28	0.10031	N	2.46	0.17113	T	-0.09	0.12847	N	0.211	0.23506	-0.9640	0.38409	T	0.020	0.08453	T	10	0.014503986	0.00305	T	0.001722	0.02882	T	0.071	0.20720	.	.	0.0297737177859	0.01360	0.18350414327736794	0.18269	0.262470570892	0.28810	0.189090907574	0.00209	T	0.006554	0.05980	T	-0.367994	0.03697	T	-0.766375	0.02889	T	0.00297670112536826	0.00031	T	0.686031	0.34984	T	0.03126998	0.02936	0.06744009	0.13950	0.03126998	0.02936	0.06744009	0.13950	-3.1	0.12926	T	.	.	0.077	0.12037	B	.;.;.;.	.;.;.;.	0.098538	0.05004	1.561	0.83262309187141059	0.14629	0.00628	0.02764	N	AEFI	0.057154	0.10625	N	-1.62095146133237	0.01164	0.05056828	-1.6387140425188	0.01435	0.06490251	6.1228187821526E-4	0.07460	0.533608	0.22052	0	0.588015	0.36545	0	0.573888	0.23631	0	0.638833	0.57524	0	.	.	4.36	-5.77	0.02176	-0.090000	0.11129	-1.642000	0.05002	-2.010000	0.00442	0.010000	0.18352	0.000000	0.08366	0.868000	0.41282	0.0:0.2279:0.0:0.7721	13.863	0.63071	907	0.22727	.;Cation/H+ exchanger;.;Cation/H+ exchanger	.	.	.	.	.	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	0.027284	0.098592	0.002747	0.017241	0.000000	0.052632	0.023256	0.048780	0.1	62.37	86	chr4	102911453	.	C	T	62.37	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.118;DP=571;ExcessHet=0.2348;FS=4.082;InbreedingCoeff=-0.1066;MLEAC=2;MLEAF=0.1;MQ=57;MQRankSum=-4.918;QD=0.37;ReadPosRankSum=2.92;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,7:82:68:0|1:102911453_C_T:68,0,3093:102911453	8	0	2	0
chr4	102911463	102911463	A	T	exonic	SLC9B1	.	nonsynonymous SNV	SLC9B1:NM_001100874:exon8:c.T904A:p.F302I,SLC9B1:NM_139173:exon8:c.T904A:p.F302I	.	597	914	8	3	0	14	0.00760043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00216527770001	.	.	0.0014	0.0019	0.0016	0.0024	0.0002	0.0014	0	0.0009	0.0018758	290	154602	rs201651247	3.894e-05	0.0012	3.737e-05	4.053e-05	0.0002	3.075e-05	2.764e-05	0.0001	0.0001	0	0	3.858e-05	0	2.576e-05	0	3.249e-05	1.674e-05	0.0002	9.414e-05	0.0030	9.202e-05	9.636e-05	0.0002	5.652e-05	4.462e-05	4.851e-05	3.494e-05	2.47e-05	0	0.0001	0	0.0002	0.0002	0	0.0001	0.0005	0	0.407	0.10245	T	0.481	0.22154	T	0.004	0.12183	B	0.009	0.19048	B	0.394122	0.13214	N	0.710008	0.998532	0.22091	N	0.195	0.09149	N	2.47	0.16089	T	-1.03	0.32185	N	0.22	0.24634	-1.0211	0.23357	T	0.014	0.05417	T	10	0.01368317	0.00289	T	0.002165	0.04043	T	0.072	0.21020	.	.	0.0482279557977	0.04254	0.4953390832176176	0.49454	0.314701398016	0.33750	0.377220779657	0.21861	T	0.011717	0.10413	T	-0.285367	0.10106	T	-0.647686	0.09117	T	0.015039780456133	0.00324	T	0.810219	0.47186	T	0.05518191	0.10690	0.03648809	0.03104	0.05518191	0.10690	0.03648809	0.03104	-6.484	0.50968	T	.	.	0.063	0.07985	B	.;.;.;.	.;.;.;.	0.016160	0.04396	1.140	0.88603861850188859	0.18108	0.02391	0.06784	N	AEI	0.053510	0.09647	N	-1.33454969589774	0.03288	0.1466112	-1.38600311532037	0.03400	0.1585423	0.546490273994975	0.21298	0.533608	0.22052	0	0.588015	0.36545	0	0.573888	0.23631	0	0.638833	0.57524	0	.	.	4.36	-8.73	0.00728	-0.483000	0.06616	-3.407000	0.02810	0.691000	0.84096	0.283000	0.25169	0.000000	0.08366	0.993000	0.69303	0.3528:0.122:0.0718:0.4534	2.690	0.04802	907	0.22727	.;Cation/H+ exchanger;.;Cation/H+ exchanger	.	.	.	.	.	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	0.024970	0.110294	0.002747	0.013043	0.000000	0.043860	0.023256	0.044355	0.05	47.43	39	chr4	102911463	.	A	T	47.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.302;DP=573;ExcessHet=0;FS=3.467;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.3;MQRankSum=-5.033;QD=0.56;ReadPosRankSum=-0.352;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,7:85:59:0|1:102911453_C_T:59,0,3173:102911453	9	0	1	0
chr4	103123040	103123040	G	C	exonic	CENPE	.	nonsynonymous SNV	CENPE:NM_001286734:exon41:c.C6611G:p.S2204C,CENPE:NM_001813:exon43:c.C6974G:p.S2325C	.	440	1031	46	5	0	56	0.02644	.	.	.	363639	CENPE-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.066	.	0.0053	0.00599042	0.0071	0.0009	0.0032	0	0.0008	0.0070	0.0165	0.0202	0.0067658	1046	154602	rs61751592	0.0069	0.0069	0.0062	0.0075	0.0205	0.0067	0.0067	0.0197	0.0194	0.0011	0.0030	0.0191	5.043e-05	0.0007	0.0146	0.0063	0.0080	0.0205	0.0055	0.0055	0.0057	0.0054	0.0185	0.0052	0.0051	0.0154	0.0142	0.0011	0	0.0055	0.0245	0.0002	0.0006	0.0171	0.0074	0.0095	0.0185	0.289	0.25457	T	0.229	0.25210	T	0.0	0.07471	B	0.0	0.04355	B	.	.	.	.	1	0.08975	N	-0.06	0.04898	N	-0.0	0.62762	T	2.46	0.00478	N	0.214	0.24010	-1.0353	0.18762	T	0.078	0.31012	T	9	0.0037833452	0.00071	T	.	.	.	0.066	0.19193	.	.	0.27715347029	0.27323	0.10530451158643887	0.10460	0.0379199756883	0.04027	0.339432835579	0.16352	T	0.029523	0.21136	T	-0.521914	0.00429	T	-0.506213	0.21705	T	0.00245141748632163	0.00025	T	0.589341	0.22547	T	0.03519231	0.04095	0.044902492	0.05921	0.036797013	0.04597	0.05709746	0.10320	-4.187	0.26563	T	.	.	0.091	0.16973	B	.;.;.	.;.;.	0.848608	0.12204	8.752	0.96871932267467953	0.31423	0.01065	0.03951	N	AEFBI	0.035227	0.04498	N	-0.922340630374555	0.10321	0.4926205	-0.873426888120818	0.12725	0.6562592	0.00249431243295335	0.09478	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.71	1.88	0.24630	0.103000	0.15128	0.725000	0.21043	0.509000	0.23192	0.000000	0.06391	0.001000	0.17328	0.889000	0.42754	0.1106:0.4497:0.4397:0.0	6.601	0.21892	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	0.016616	0.015152	0.006793	0.014620	0.100000	0.017241	0.015244	0.053030	0.1	2143.14	34	chr4	103123040	.	G	C	2143.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.59;DP=464;ExcessHet=0.2348;FS=2.538;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.186;SOR=0.916	GT:AD:DP:GQ:PL	0/1:40,43:83:99:1060,0,959	8	0	2	0
chr4	113359237	113359237	A	T	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001148:exon38:c.A10619T:p.D3540V	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.809	0.462259914487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.062	0.67890	T	.	.	.	.	.	.	0.000027	0.55875	D	0.000000	1	0.81001	D	2.695	0.78878	M	-0.54	0.96659	T	-3.67	0.78721	D	0.782	0.79696	1.002	0.97230	D	0.914	0.97143	D	10	0.8688038	0.86136	D	0.46226	0.94534	D	0.809	0.93816	.	.	0.922854576676	0.92206	0.6367119446344923	0.63605	0.529130831561	0.50476	0.558007717133	0.46987	T	0.599014	0.87121	D	0.512966	0.94658	D	0.499063	0.94579	D	0.995614886283875	0.87749	D	0.929807	0.74042	D	0.6037467	0.72892	0.62116885	0.77930	0.6037467	0.72893	0.62116885	0.77931	-4.304	0.28232	T	0.5409610368919867	0.61062	0.938	0.85713	P	.;.;.	.;.;.	4.621793	0.73395	26.0	0.99211268694320909	0.55594	0.97763	0.76955	D	AEFBCI	0.938290	0.93727	D	0.782056601508049	0.84970	8.439336	0.795764058993977	0.89497	9.999358	0.999999999963436	0.74766	0.706548	0.73137	0	0.61073	0.52368	0	0.724815	0.87919	0	0.584449	0.35598	0	.	.	5.86	5.86	0.93936	8.947000	0.92735	11.241000	0.90426	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.265	0.82400	635	0.64580	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1182.43	40	chr4	113359237	.	A	T	1182.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.512;DP=465;ExcessHet=0;FS=0.721;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=1.52;SOR=0.592	GT:AD:DP:GQ:PL	0/1:58,52:110:99:1194,0,1464	9	0	1	0
chr4	119271801	119271801	G	C	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon13:c.G1788C:p.K596N,USP53:NM_001371397:exon14:c.G1941C:p.K647N,USP53:NM_001371399:exon14:c.G1941C:p.K647N,USP53:NM_001371398:exon15:c.G1941C:p.K647N,USP53:NM_019050:exon15:c.G1941C:p.K647N,USP53:NM_001371395:exon16:c.G1941C:p.K647N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0273671481651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.025	0.56192	D	0.998	0.73220	D	0.82	0.59072	P	0.035464	0.24640	N	0.405874	0.786313	0.34330	D	2.585	0.75554	M	0.48	0.55945	T	-1.65	0.39503	N	0.403	0.44379	-0.4066	0.71818	T	0.243	0.61142	T	10	0.2934904	0.46923	T	0.027367	0.50187	D	0.112	0.31546	0.179	0.08626	0.68695168648	0.68427	0.14079476716113953	0.14002	0.636712139675	0.57440	0.475926458836	0.35496	T	0.095754	0.39686	T	-0.159747	0.26799	T	-0.467242	0.25814	T	0.965206325054169	0.67194	D	0.876112	0.58827	D	0.22674352	0.45361	0.18983121	0.42352	0.22674352	0.45362	0.18983121	0.42351	-6.968	0.53800	T	.	.	0.529	0.65890	A	.;.	.;.	3.288410	0.45089	22.1	0.99870641327622545	0.94815	0.94427	0.61130	D	AEFDBI	0.426737	0.49097	N	0.437979510911287	0.63525	4.587841	0.405475257690823	0.61905	4.397378	0.999808580347288	0.43304	0.730579	0.87903	0	0.588015	0.36545	0	0.65145	0.50148	0	0.648885	0.59868	0	.	.	5.47	3.71	0.41733	1.781000	0.38274	2.576000	0.33390	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2234:0.0:0.7766:0.0	9.652	0.39066	546	0.72524	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	44.1	114	chr4	119271801	.	G	C	44.1	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.6;DP=1014;ExcessHet=0.2348;FS=215.676;InbreedingCoeff=-0.2047;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=1.6;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,33:149:48:0|1:119271801_G_C:48,0,3414:119271801	5	0	2	3
chr4	119320687	119320687	C	T	exonic	FABP2	.	nonsynonymous SNV	FABP2:NM_000134:exon2:c.G223A:p.D75N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	0.0434069013869	.	0.000798722	0.0004	0	8.734e-05	0	0	3.01e-05	0.0011	0.0030	0.0003687	57	154602	rs546773434	0.0002	0.0002	0.0001	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	6.431e-05	7.886e-05	0	0	0	0	9.069e-06	0.0002	0.0029	7.889e-05	7.875e-05	6.43e-05	9.415e-05	0.0023	4.499e-05	3.514e-05	0.0013	0.0010	0	0	6.553e-05	0	0	0	0	0	0	0.0023	0.004	0.65419	D	0.076	0.42614	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.55	0.54728	T	-4.77	0.80425	D	0.716	0.71854	-0.4098	0.71717	T	0.337	0.70346	T	10	0.05150354	0.05041	T	0.043407	0.60966	D	0.365	0.68495	0.608	0.74063	0.593256499266	0.59003	0.9004884393129653	0.90020	0.134283164794	0.15126	0.631737828255	0.57392	T	.	.	.	-0.397018	0.02422	T	-0.34768	0.39470	T	0.363571961268865	0.27548	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457	0.62567	A	.	.	3.978350	0.58465	24.0	0.99847707122101825	0.92750	0.99690	0.98696	D	AEFBI	0.947085	0.95726	D	0.664787537532117	0.77329	6.653854	0.607279339640711	0.75466	6.315736	0.999999990105553	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.71	5.71	0.89031	7.364000	0.78783	5.818000	0.50061	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.818000	0.38543	0.0:1.0:0.0:0.0	19.474	0.94965	691	0.58815	.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	678.43	54	chr4	119320687	.	C	T	678.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=452;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=-1.523;SOR=0.625	GT:AD:DP:GQ:PL	0/1:52,29:81:99:690,0,1309	9	0	1	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	.	.	.	.	.	.	.	.	0.45	2255.24	79	chr4	140563137	.	C	G	2255.24	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.837;DP=883;ExcessHet=15.1594;FS=200.301;InbreedingCoeff=-0.8222;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=3.08;ReadPosRankSum=-0.592;SOR=10.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,34:87:99:0|1:140563137_C_G:339,0,1559:140563137	1	0	9	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	.	.	.	.	.	.	.	.	0.5	2261.8	79	chr4	140563138	.	C	G	2261.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-1.878;DP=877;ExcessHet=15.1594;FS=206.912;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.16;ReadPosRankSum=-0.474;SOR=10.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,34:87:99:0|1:140563137_C_G:339,0,1559:140563137	0	0	9	1
chr4	143999441	143999441	C	T	exonic	GYPB	.	nonsynonymous SNV	GYPB:NM_002100:exon3:c.G145A:p.G49R,GYPB:NM_001304382:exon4:c.G67A:p.G23R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00165078603425	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1275078171	2.172e-06	2.192e-05	1.448e-06	2.895e-06	0.0004	5.8e-07	1.6e-07	6.307e-05	2.601e-05	0	0	0	0	0	0.0004	9.581e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.47320	D	0.845	0.44702	T	.	.	.	.	.	.	0.000084	0.00436	N	6.132730	1	0.08975	N	.	.	.	2.86	0.14038	T	-3.67	0.70191	D	0.135	0.22228	-1.0218	0.23129	T	0.020	0.08500	T	9	0.10239974	0.18765	T	0.001651	0.02702	T	0.039	0.10176	0.432	0.48171	0.0138822411134	0.00435	0.01847447620011329	0.01801	0.0138822183601	0.01324	.	.	.	0.011123	0.09967	T	-0.288896	0.09746	T	-0.652755	0.08762	T	0.386360138654709	0.28426	T	0.333467	0.15660	T	0.16005336	0.35919	0.14176376	0.33749	0.16005336	0.35919	0.14176376	0.33748	-2.92	0.24370	T	.	.	0.116	0.29887	B	.;.;.;.;.	.;.;.;.;.	-2.971191	0.00011	0.001	0.93271237426627307	0.22969	0.00137	0.00841	N	AEFBI	0.085908	0.17417	N	-1.61350804969029	0.01198	0.05210411	-1.76386921138319	0.00882	0.03942428	0.687974761123489	0.22556	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.01	-3.05	0.05069	-5.044000	0.00184	-7.504000	0.01143	-2.042000	0.00423	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1462:0.3952:0.2668:0.1918	1.621	0.02550	713	0.56348	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2026.43	59	chr4	143999441	.	C	T	2026.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.74;DP=460;ExcessHet=0;FS=1.855;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.84;MQRankSum=-1.109;QD=24.41;ReadPosRankSum=0.758;SOR=0.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,51:83:99:0|1:143999441_C_T:2038,0,1170:143999441	9	0	1	0
chr4	168461973	168461973	A	C	exonic	DDX60L	.	nonsynonymous SNV	DDX60L:NM_001012967:exon5:c.T332G:p.L111R,DDX60L:NM_001291510:exon5:c.T332G:p.L111R,DDX60L:NM_001345927:exon5:c.T332G:p.L111R,DDX60L:NM_001378072:exon6:c.T332G:p.L111R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.0211084786729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.005286	0.32928	U	0.000000	0.976782	0.25353	N	.	.	.	1.42	0.33189	T	-5.32	0.87143	D	0.756	0.75466	-0.9556	0.39988	T	0.164	0.50045	T	10	0.7264623	0.74007	D	0.021108	0.43827	T	0.279	0.59619	0.74	0.87232	0.18274738541	0.17906	0.607579293685295	0.60689	0.213037995034	0.23811	0.559605836868	0.47212	T	0.457769	0.79601	T	-0.00513463	0.50944	T	-0.245152	0.50294	T	0.994586110115051	0.85963	D	0.908809	0.67676	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.821	0.81635	P	.;.;.;.	.;.;.;.	3.814137	0.55029	23.6	0.99658112516246755	0.77757	0.89323	0.49718	D	AEFBHCI	0.390350	0.46921	N	0.287638452010981	0.55521	3.716182	0.122768954539617	0.45715	2.829852	0.999998654487064	0.74766	0.52065	0.21626	1	0.588015	0.36545	0	0.573888	0.23631	0	0.677038	0.66255	0	.	.	3.25	3.25	0.36363	5.615000	0.67382	3.839000	0.40032	0.567000	0.28720	1.000000	0.71638	0.991000	0.31484	0.811000	0.38219	1.0:0.0:0.0:0.0	11.506	0.49715	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1009.43	39	chr4	168461973	.	A	C	1009.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.271;DP=443;ExcessHet=0;FS=1.82;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.908;SOR=0.498	GT:AD:DP:GQ:PL	0/1:42,47:89:99:1021,0,1151	9	0	1	0
chr4	168898669	168898669	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255A:p.M85I,PALLD:NM_001367569:exon4:c.G255A:p.M85I,PALLD:NM_001166110:exon5:c.G915A:p.M305I,PALLD:NM_001367568:exon5:c.G306A:p.M102I,PALLD:NM_001367570:exon5:c.G306A:p.M102I,PALLD:NM_001166109:exon12:c.G1230A:p.M410I,PALLD:NM_016081:exon13:c.G2376A:p.M792I,PALLD:NM_001166108:exon14:c.G2427A:p.M809I	.	.	.	.	.	.	.	.	.	.	.	1845107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0305366275154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.21801	T	0.479	0.55759	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999973	0.81001	D	.	.	.	-0.62	0.71895	T	-1.59	0.56787	N	0.698	0.70263	-0.5390	0.67201	T	0.308	0.67867	T	10	0.359553	0.52621	T	0.030537	0.52827	D	0.201	0.48592	.	.	0.711221558017	0.70869	0.507454384894299	0.50667	0.790969623184	0.65777	0.635476946831	0.57922	T	0.084931	0.37388	T	0.0964953	0.63912	D	-0.0991676	0.63462	T	0.720881402492523	0.41743	D	0.822018	0.50309	T	.	.	.	.	.	.	.	.	-9.058	0.70411	D	.	.	0.834	0.80161	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080126	0.60688	24.2	0.96356890166856102	0.29537	0.98354	0.81929	D	AEFBI	0.905065	0.85613	D	0.294826853967169	0.55886	3.752753	0.408467051562211	0.62091	4.418906	0.999999980908939	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.002000	0.88029	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	19.497	0.95071	949	0.11373	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1321.94	65	chr4	168898669	.	G	A	1321.94	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.208;DP=795;ExcessHet=7.0302;FS=119.457;InbreedingCoeff=-0.5379;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=0.663;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,20:93:99:0|1:168898668_T_C:238,0,1365:168898668	3	0	7	0
chr4	174976796	174976796	G	C	exonic	ADAM29	.	nonsynonymous SNV	ADAM29:NM_001278127:exon2:c.G1271C:p.C424S,ADAM29:NM_001130705:exon3:c.G1271C:p.C424S,ADAM29:NM_001130703:exon4:c.G1271C:p.C424S,ADAM29:NM_001130704:exon4:c.G1271C:p.C424S,ADAM29:NM_014269:exon5:c.G1271C:p.C424S,ADAM29:NM_001278125:exon6:c.G1271C:p.C424S,ADAM29:NM_001278126:exon6:c.G1271C:p.C424S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0266679623915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.001857	0.37840	U	0.000000	0.999998	0.08975	N	5.1	0.99921	H	1.94	0.22678	T	-9.8	0.98670	D	0.82	0.81658	-0.5933	0.65089	T	0.258	0.62834	T	9	0.9865602	0.98972	D	0.026668	0.49557	D	0.304	0.62510	0.962	0.99613	0.489449420884	0.48578	0.9742855263701126	0.97418	0.467995876995	0.46163	0.475811183453	0.35480	T	0.086424	0.37720	T	0.0576209	0.59315	T	-0.155008	0.58798	T	0.999632000923157	0.98254	D	0.845015	0.52334	T	0.7635974	0.81666	0.6661605	0.80424	0.7635974	0.81667	0.6661605	0.80425	-11.691	0.83314	D	.	.	0.973	0.89954	P	.;.;.;.;.;.	.;.;.;.;.;.	4.208211	0.63560	24.6	0.96640059064286987	0.30549	0.96069	0.67392	D	AEFBI	0.513199	0.54109	D	0.600746358501401	0.73223	5.931024	0.334334820257623	0.57567	3.923077	0.00115874907467431	0.08283	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.6	3.6	0.40374	5.731000	0.68201	9.145000	0.78926	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.091000	0.17840	0.0:0.0:1.0:0.0	11.009	0.46866	960	0.08626	Disintegrin domain|Disintegrin domain|Disintegrin domain;Disintegrin domain|Disintegrin domain|Disintegrin domain;Disintegrin domain|Disintegrin domain|Disintegrin domain;Disintegrin domain|Disintegrin domain|Disintegrin domain;Disintegrin domain|Disintegrin domain|Disintegrin domain;Disintegrin domain|Disintegrin domain|Disintegrin 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	.	.	.	.	.	.	.	.	0.05	3207.43	34	chr4	174976796	.	G	C	3207.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.56;DP=556;ExcessHet=0;FS=2.893;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=1.98;SOR=0.888	GT:AD:DP:GQ:PL	0/1:117,120:237:99:3219,0,3185	9	0	1	0
chr4	176195505	176195505	T	C	exonic	SPATA4	.	nonsynonymous SNV	SPATA4:NM_144644:exon1:c.A58G:p.K20E	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0317032853948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.28900	T	0.025	0.56192	D	0.001	0.07471	B	0.003	0.08700	B	0.768755	0.06584	N	1.141600	1	0.08975	N	1.39	0.34934	L	0.43	0.56772	T	-0.75	0.21003	N	0.156	0.16168	-0.9810	0.34771	T	0.107	0.38832	T	10	0.067307115	0.09359	T	0.031703	0.53723	D	0.058	0.16647	0.133	0.03747	0.378674557249	0.37480	0.3802740617635853	0.37942	0.138484058636	0.15620	0.395594537258	0.24454	T	0.003217	0.02616	T	-0.201907	0.20529	T	-0.527802	0.19506	T	0.03996403512181	0.03683	T	0.389061	0.09624	T	0.10643972	0.25167	0.07896605	0.17735	0.10643972	0.25167	0.07896605	0.17734	-3.925	0.22677	T	.	.	0.089	0.12084	B	.	.	0.738880	0.11084	7.732	0.97079037114924172	0.32272	0.00293	0.01568	N	ALL	0.044904	0.07281	N	-0.953675135263571	0.09610	0.4555862	-1.00450997110567	0.09686	0.4833178	0.999999999962052	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.56214	0.19341	0	.	.	4.42	0.604	0.16725	-0.100000	0.10959	-1.583000	0.05121	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.0:0.2142:0.2116:0.5742	3.707	0.07936	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	.	.	.	.	.	.	.	.	0.05	2605.43	54	chr4	176195505	.	T	C	2605.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.788;DP=594;ExcessHet=0;FS=1.082;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.542;SOR=0.604	GT:AD:DP:GQ:PL	0/1:99,116:215:99:2617,0,2439	9	0	1	0
chr4	189953101	189953101	C	T	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon4:c.C293T:p.T98M	.	169	1019	334	0	0	334	0.140809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	.	0.4080	0.3423	0.3991	0.3531	0.3948	0.4099	0.4323	0.4613	0.0003816	59	154602	rs201275486	7.611e-05	0.0007	8.045e-05	7.169e-05	0.0003	6.427e-05	5.97e-05	0.0002	0.0002	6.318e-05	0.0003	0.0001	2.682e-05	0.0001	0.0003	5.437e-05	5.221e-05	0.0003	7.555e-05	0.0010	4.012e-05	0.0001	5.02e-05	4.146e-05	3.255e-05	8.32e-06	3.11e-06	5.02e-05	0	0	0	0	0.0007	0	3.052e-05	0	0	0.04	0.42199	D	0.067	0.44302	T	0.952	0.54136	P	0.4	0.44481	B	0.000001	0.84330	D	0.093692	1	0.81001	D	.	.	.	1.78	0.52642	T	-4.29	0.76414	D	0.333	0.37405	-0.8920	0.48758	T	0.126	0.43174	T	9	0.005040586	0.00109	T	.	.	.	0.267	0.58126	.	.	.	.	0.7086331413770478	0.70805	0.761265370882	0.64277	0.643288969994	0.59033	T	0.592736	0.86832	D	0.145454	0.68842	D	-0.0288412	0.68446	D	0.0610726985776521	0.07336	T	.	.	.	0.11254749	0.26589	0.23484966	0.48713	0.11254749	0.26589	0.23484966	0.48712	-9.66	0.71851	D	.	.	0.172	0.47039	B	.;.	.;.	3.588897	0.50628	23.0	0.99818926167319089	0.90238	0.93303	0.57857	D	AEFBI	0.649950	0.62423	D	0.332693509411821	0.57835	3.952406	0.333491443171521	0.57519	3.917869	0.999999999185946	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.71	3.71	0.41733	4.481000	0.59983	3.605000	0.39235	-0.252000	0.07121	1.000000	0.71638	0.999000	0.35428	0.157000	0.20547	0.0:1.0:0.0:0.0	13.859	0.63048	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	0.269832	0.442623	0.240437	0.270270	0.285714	0.236842	0.255725	0.272727	0.4	523.98	19	chr4	189953101	.	C	T	523.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.414;DP=145;ExcessHet=10.3881;FS=0.939;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=52.97;MQRankSum=-2.362;QD=4.52;ReadPosRankSum=0.851;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:0|1:189953101_C_T:57,0,352:189953101	2	0	8	0
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	.	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4	503.01	15	chr4	189953126	.	G	T	503.01	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.366;DP=136;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6672;MLEAC=8;MLEAF=0.4;MQ=52.73;MQRankSum=-2.287;QD=4.57;ReadPosRankSum=0.492;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:0|1:189953101_C_T:60,0,330:189953101	2	0	8	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	.	.	.	.	.	.	.	.	0.2	458.71	117	chr4	189957425	.	A	G	458.71	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.074;DP=883;ExcessHet=1.5895;FS=0.781;InbreedingCoeff=-0.2537;MLEAC=4;MLEAF=0.2;MQ=46.42;MQRankSum=-1.461;QD=1.22;ReadPosRankSum=-0.234;SOR=0.874	GT:AD:DP:GQ:PL	0/1:63,12:75:74:74,0,1741	6	0	4	0
chr5	14461030	14461030	G	A	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon35:c.G5215A:p.V1739I	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0152440388558	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1315846530	4.221e-06	8.893e-06	5.558e-06	2.85e-06	3.114e-05	1.52e-06	1e-06	4.1e-06	1.53e-06	3.114e-05	2.42e-05	0	0	0	0	1.835e-06	0	2.47e-05	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.349	0.12345	T	0.067	0.44302	T	0.954	0.54400	P	0.236	0.38470	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.125	0.59049	M	-0.16	0.65378	T	-0.45	0.14782	N	0.423	0.46274	-0.6412	0.63095	T	0.285	0.65734	T	10	0.32944855	0.50198	T	0.015244	0.35857	T	0.232	0.53354	0.128	0.03331	0.709050542064	0.70651	0.11387519030536801	0.11315	0.677898423499	0.59851	0.739964962006	0.72968	T	0.050764	0.28689	T	0.0175368	0.54049	T	-0.212586	0.53447	T	0.649024128913879	0.38420	D	0.965303	0.90777	D	0.13464284	0.31275	0.09735222	0.23168	0.13464284	0.31275	0.09735222	0.23168	-4.252	0.27499	T	0.25433035355670397	0.34397	0.201	0.42506	B	.;.;.	.;.;.	4.232045	0.64097	24.7	0.99795950589841897	0.88106	0.99546	0.97297	D	AEFDGBIJ	0.900333	0.84573	D	0.516130514747529	0.68044	5.163205	0.595227305473075	0.74597	6.16416	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.35	5.35	0.76297	9.858000	0.98409	8.353000	0.77016	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.379000	0.26312	0.0:0.0:1.0:0.0	19.088	0.93195	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	.	.	.	.	.	.	.	.	0.05	777.43	34	chr5	14461030	.	G	A	777.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.46;DP=414;ExcessHet=0;FS=2.687;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=1.38;SOR=0.919	GT:AD:DP:GQ:PL	0/1:69,34:103:99:789,0,1660	9	0	1	0
chr5	41172239	41172239	G	A	exonic	C6	.	nonsynonymous SNV	C6:NM_000065:exon9:c.C1277T:p.S426L,C6:NM_001115131:exon9:c.C1277T:p.S426L	C6 deficiency;Combined C6/C7 deficiency (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.0381834719083	.	.	3.301e-05	0	0	0	0	6e-05	0	0	2.59e-05	4	154602	rs759979977	5.474e-06	5.472e-06	4.085e-06	6.877e-06	6.296e-06	2.36e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.296e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.089	0.40426	T	0.009	0.15093	B	0.015	0.17295	B	0.001557	0.38671	N	0.255835	0.983197	0.39984	D	2.19	0.61577	M	-1.89	0.84557	D	-1.82	0.42763	N	0.135	0.13484	-0.2163	0.77250	T	0.485	0.80360	T	10	0.20841452	0.37170	T	0.038183	0.58072	D	0.259	0.57090	0.555	0.67271	0.853093137908	0.85167	0.597558841771172	0.59686	0.0391732691062	0.04173	0.368175148964	0.20569	T	0.096783	0.39894	T	-0.0984124	0.36689	T	-0.248688	0.49946	T	0.439609915018082	0.30415	T	0.851715	0.53598	D	0.319662	0.54612	0.24979477	0.50557	0.319662	0.54612	0.24979477	0.50557	-5.378	0.40707	T	.	.	0.208	0.43640	B	.;.	.;.	4.262417	0.64784	24.7	0.99219662618067594	0.55870	0.96669	0.70311	D	AEFI	0.907039	0.86057	D	-0.0249754145994677	0.40727	2.423616	0.0944491709770175	0.44269	2.711945	0.898562709203638	0.26029	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.04	4.15	0.47978	5.454000	0.66392	9.624000	0.81112	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0758:0.0:0.9242:0.0	14.353	0.66277	471	0.78036	Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) 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	.	.	.	.	.	.	.	.	0.05	934.43	36	chr5	41172239	.	G	A	934.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.638;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.319;SOR=0.631	GT:AD:DP:GQ:PL	0/1:45,37:82:99:946,0,1205	9	0	1	0
chr5	50829904	50829904	A	G	exonic	PARP8	.	nonsynonymous SNV	PARP8:NM_001178056:exon21:c.A2050G:p.M684V,PARP8:NM_001331028:exon22:c.A2113G:p.M705V,PARP8:NM_024615:exon22:c.A2176G:p.M726V,PARP8:NM_001178055:exon23:c.A2176G:p.M726V	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00670284399301	0.0015	0.000599042	0.0020	0.0006	0.0007	0	0	0.0022	0.0011	0.0048	0.0018887	292	154602	rs142626343	0.0018	0.0018	0.0016	0.0019	0.0059	0.0017	0.0017	0.0044	0.0041	0.0003	0.0008	0.0066	0	5.722e-05	0.0059	0.0016	0.0022	0.0046	0.0011	0.0011	0.0012	0.0010	0.0029	0.0009	0.0009	0.0018	0.0014	0.0002	0	0.0012	0.0055	0	0	0.0068	0.0015	0.0014	0.0029	0.614	0.09155	T	0.834	0.06448	T	0.003	0.14184	B	0.003	0.14300	B	0.000000	0.84330	D	0.000000	0.99871	0.45323	D	0.025	0.08010	N	2.48	0.14657	T	-0.15	0.09297	N	0.33	0.41754	-1.0611	0.11483	T	0.030	0.12804	T	9	0.011712164	0.00255	T	0.006703	0.17699	T	0.143	0.38195	.	.	0.347217280506	0.34334	0.7629276205720856	0.76240	0.789451278895	0.65700	0.516240000725	0.41098	T	0.040763	0.25635	T	-0.451423	0.01108	T	-0.42081	0.30984	T	0.149053514003754	0.17027	T	0.768423	0.40183	T	0.18151607	0.39326	0.15985855	0.37261	0.18151607	0.39326	0.15985855	0.37261	-8.864	0.66817	D	.	.	0.084	0.15654	B	.;.;.;.;.	.;.;.;.;.	2.926809	0.38873	20.8	0.70433891668309978	0.09294	0.89685	0.50309	D	AEFGBI	0.256155	0.37513	N	-0.0689450619117559	0.38760	2.275142	0.128083347782333	0.45991	2.852609	0.978530087881916	0.29932	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.51	5.51	0.81769	3.192000	0.50690	9.331000	0.80131	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.628	0.76629	699	0.57969	Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain;Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain;Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain;.;Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, 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	0.005035	0.000000	0.005435	0.005848	0.000000	0.008621	0.000000	0.015152	0.05	1321.43	34	chr5	50829904	.	A	G	1321.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.781;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.31;SOR=0.685	GT:AD:DP:GQ:PL	0/1:50,56:106:99:1333,0,1209	9	0	1	0
chr5	56771557	56771557	G	T	exonic	LOC105378979	.	nonsynonymous SNV	LOC105378979:NM_001365184:exon2:c.C224A:p.T75N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	.	.	.	.	.	.	.	.	0.0018826	49	26028	rs531984361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0009	0.0007	0.0012	0.0147	0.0008	0.0008	0.0119	0.0109	7.214e-05	0	0.0006	0.0006	0	0	0	0.0008	0.0009	0.0147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	38.49	.	chr5	56771557	.	G	T	38.49	.	AC=2;AF=0.2;AN=10;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;QD=19.25;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	5
chr5	65660736	65660736	A	G	exonic	TRAPPC13	.	nonsynonymous SNV	TRAPPC13:NM_001365342:exon8:c.A247G:p.M83V,TRAPPC13:NM_001365343:exon8:c.A247G:p.M83V,TRAPPC13:NM_001093756:exon9:c.A718G:p.M240V,TRAPPC13:NM_001243737:exon9:c.A718G:p.M240V,TRAPPC13:NM_001093755:exon10:c.A736G:p.M246V,TRAPPC13:NM_024941:exon10:c.A736G:p.M246V	.	433	1062	27	0	0	27	0.0125523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	.	0.0004	0.00259585	0.0026	0.0003	0.0007	0	0	0.0014	0.0046	0.0130	0.0022251	344	154602	rs201906257	0.0014	0.0014	0.0010	0.0018	0.0120	0.0014	0.0013	0.0114	0.0111	0.0002	0.0014	0.0050	5.05e-05	7.495e-05	0.0054	0.0006	0.0019	0.0120	0.0011	0.0011	0.0010	0.0012	0.0104	0.0010	0.0009	0.0081	0.0073	0.0002	0	0.0009	0.0046	0	0	0.0068	0.0010	0.0028	0.0104	0.293	0.14843	T	0.303	0.20164	T	0.04	0.21238	B	0.102	0.30857	B	0.000014	0.62929	D	0.179778	0.972853	0.38979	D	2.3	0.65703	M	.	.	.	-1.71	0.40660	N	0.537	0.56919	-0.9756	0.35993	T	0.125	0.43028	T	9	0.012631506	0.00271	T	.	.	.	0.340	0.66202	.	.	0.198222871337	0.19423	0.38801875383540524	0.38716	0.484728417222	0.47373	0.586839914322	0.51049	T	0.045821	0.27239	T	-0.317096	0.07139	T	-0.217875	0.52942	T	0.0239845453986895	0.01143	T	0.946005	0.79398	D	0.13417049	0.31182	0.108112514	0.26037	0.13417049	0.31182	0.108112514	0.26037	-8.092	0.62027	D	.	.	0.107	0.21616	B	.;.;.;.	.;.;.;.	3.128645	0.42264	21.5	0.95595567329373277	0.27324	0.91225	0.53106	D	AEFBI	0.445405	0.50190	N	-0.151747385742028	0.35160	2.016076	0.0128654453405862	0.40310	2.403735	0.0186964224830056	0.13087	0.736574	0.97449	0	0.743671	0.97443	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.93	3.68	0.41359	3.615000	0.53908	6.008000	0.52598	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.7027:0.1517:0.0:0.1456	7.105	0.24539	901	0.24189	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.001359	0.002924	0.000000	0.025862	0.012195	0.015152	0.05	1432.43	34	chr5	65660736	.	A	G	1432.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.238;DP=419;ExcessHet=0;FS=4.656;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-2.081;SOR=1.12	GT:AD:DP:GQ:PL	0/1:51,62:113:99:1444,0,1143	9	0	1	0
chr5	67184047	67184047	C	-	exonic	CD180	.	frameshift deletion	CD180:NM_005582:exon3:c.796delG:p.A266Pfs*40	.	438	1069	15	0	0	15	0.00696702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	.	0.0009	0	0.0009	0	0.0014	0.0010	0	0.0014	0.0008085	125	154602	rs748378294	0.0010	0.0010	0.0009	0.0011	0.0036	0.0009	0.0009	0.0024	0.0020	0.0002	0.0010	0.0053	0	0.0012	0.0036	0.0008	0.0011	0.0021	0.0008	0.0008	0.0007	0.0008	0.0025	0.0007	0.0006	0.0014	0.0011	0.0001	0	0.0007	0.0058	0	0.0018	0.0034	0.0007	0.0005	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008560	0.010101	0.006793	0.008772	0.000000	0.000000	0.009146	0.011364	0.05	1616.39	44	chr5	67184046	.	GC	G	1616.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.1;DP=674;ExcessHet=0;FS=2.422;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.647;SOR=0.962	GT:AD:DP:GQ:PL	0/1:69,49:118:99:1628,0,2431	9	0	1	0
chr5	79044510	79044510	T	C	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.A788G:p.H263R	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.620	0.0499483824762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.228	0.25286	T	0.648	0.40583	P	0.172	0.35394	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.175	0.60977	M	-1.44	0.80815	T	-1.42	0.34992	N	0.804	0.79986	-0.1303	0.79394	T	0.367	0.72712	T	10	0.64481616	0.69264	D	0.049948	0.64031	D	0.620	0.85249	0.601	0.73226	0.827341243144	0.82571	0.8269855015519543	0.82656	0.611311684803	0.55774	0.558233141899	0.47018	T	0.028244	0.20504	T	0.334612	0.85475	D	0.24287	0.85283	D	0.968468606472015	0.68253	D	0.921908	0.71628	D	0.86606336	0.88552	0.6559207	0.79854	0.86606336	0.88554	0.6559207	0.79855	-8.651	0.65424	D	0.4151006917709649	0.50477	0.852	0.79850	P	.;.	.;.	3.747857	0.53700	23.4	0.99775390252736462	0.86260	0.99126	0.91608	D	AEFBI	0.956026	0.97429	D	0.228138784264105	0.52565	3.430038	0.367314525288217	0.59556	4.134629	0.999998532021457	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	7.857000	0.85305	7.860000	0.71395	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.569	0.76062	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	262.48	102	chr5	79044510	.	T	C	262.48	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.483;DP=737;ExcessHet=0.7463;FS=139.927;InbreedingCoeff=-0.1714;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=0.782;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,15:97:99:0|1:79044510_T_C:126,0,3065:79044510	7	0	3	0
chr5	79044511	79044511	G	A	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.C787T:p.H263Y	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0145784045067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.12673	T	0.614	0.07592	T	0.029	0.19866	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.485	0.37223	L	-1.46	0.80983	T	0.46	0.03297	N	0.795	0.79118	-0.6303	0.63558	T	0.309	0.67931	T	10	0.5324558	0.63261	D	0.014578	0.34790	T	0.393	0.70844	0.467	0.53891	0.782547463411	0.78053	0.768997685997995	0.76848	0.195931964383	0.21951	0.557169079781	0.46868	T	0.017325	0.14153	T	0.221509	0.75918	D	0.0804058	0.75605	D	0.845702707767487	0.49799	D	0.930507	0.74278	D	0.7260823	0.79502	0.4871424	0.70320	0.7260823	0.79504	0.4871424	0.70320	-2.736	0.07610	T	0.3277913666749117	0.42589	0.213	0.44188	B	.;.	.;.	3.944933	0.57750	23.9	0.99348841113542719	0.60493	0.99470	0.96426	D	AEFBI	0.952969	0.96887	D	0.0628041216277017	0.44734	2.742053	0.2805814258811	0.54406	3.605736	0.999999999489839	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	9.792000	0.98216	11.788000	0.96293	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.355	0.94400	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	262.48	37	chr5	79044511	.	G	A	262.48	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.903;DP=651;ExcessHet=0.7463;FS=113.664;InbreedingCoeff=-0.1714;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=0.757;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,15:97:99:0|1:79044510_T_C:126,0,3065:79044510	7	0	3	0
chr5	80559007	80559007	A	G	exonic	ANKRD34B	.	nonsynonymous SNV	ANKRD34B:NM_001004441:exon5:c.T1013C:p.V338A	.	436	1061	25	0	0	25	0.0116442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0028	0.00439297	0.0042	0.0010	0.0022	0	0.0003	0.0029	0.0044	0.0164	0.0039003	603	154602	rs148564433	0.0038	0.0038	0.0033	0.0042	0.0156	0.0037	0.0037	0.0149	0.0147	0.0005	0.0021	0.0001	7.557e-05	0.0006	0.0088	0.0034	0.0026	0.0156	0.0027	0.0027	0.0026	0.0028	0.0137	0.0025	0.0024	0.0110	0.0101	0.0010	0	0.0039	0	0	0.0002	0	0.0034	0.0038	0.0137	0.38	0.11191	T	0.469	0.12281	T	0.0	0.02946	B	0.001	0.04355	B	0.810656	0.06825	N	1.135360	1	0.08975	N	-0.345	0.03330	N	2.39	0.15724	T	-0.17	0.09627	N	0.021	0.00339	-0.9551	0.40078	T	0.013	0.05129	T	10	0.0030637383	0.00051	T	.	.	.	0.022	0.04323	.	.	0.0666544352282	0.05500	0.36264810162296324	0.36178	0.129338878314	0.14584	0.250252187252	0.03794	T	0.00534	0.04790	T	-0.674948	0.00051	T	-0.728667	0.04388	T	0.00538134100217449	0.00058	T	0.29847	0.05558	T	0.05018048	0.09025	0.044652242	0.05834	0.05018048	0.09025	0.044652242	0.05834	-3.707	0.19422	T	.	.	0.097	0.15921	B	.	.	0.980013	0.13573	10.10	0.88781875991788861	0.18251	0.78876	0.38984	D	AEFBI	0.148571	0.27249	N	-0.792774858898037	0.13498	0.6653429	-0.637421739839242	0.18534	0.9905531	0.00174956441571191	0.08839	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	6.17	2.32	0.27895	1.824000	0.38710	2.686000	0.34052	0.756000	0.94297	0.311000	0.25423	0.940000	0.28757	0.905000	0.44082	0.7149:0.1345:0.1506:0.0	6.188	0.19722	677	0.60274	.	.	.	.	.	.	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	0.002014	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1266.43	33	chr5	80559007	.	A	G	1266.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.236;DP=397;ExcessHet=0;FS=1.706;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.282;SOR=0.496	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1278,0,1164	9	0	1	0
chr5	83539905	83539905	T	G	exonic	VCAN	.	nonsynonymous SNV	VCAN:NM_001164097:exon7:c.T3941G:p.F1314C,VCAN:NM_004385:exon8:c.T6902G:p.F2301C	Wagner syndrome 1, Autosomal dominant	2	612	644	253	11	1161	0.484414	.	.	.	195961	Wagner_syndrome|not_provided|Vitreoretinopathy	Human_Phenotype_Ontology:HP:0030673,MONDO:MONDO:0007740,MedGen:C1840452,OMIM:143200,Orphanet:898|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000655,Human_Phenotype_Ontology:HP:0007773,MONDO:MONDO:0020248,MedGen:C0344290	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.058	0.0108346477128	.	0.00179712	0.0021	0.0003	0.0020	0	0.0014	0.0026	0.0033	0.0026	0.0021086	326	154602	rs160278	0.0030	0.0030	0.0029	0.0030	0.0040	0.0029	0.0029	0.0033	0.0032	0.0005	0.0025	0.0001	0	0.0013	0.0040	0.0034	0.0025	0.0026	0.0019	0.0019	0.0021	0.0018	0.0030	0.0017	0.0017	0.0026	0.0025	0.0004	0	0.0027	0	0	0.0012	0	0.0030	0.0038	0.0019	0.029	0.54683	D	0.176	0.29843	T	0.291	0.35204	B	0.078	0.34892	B	0.701319	0.06204	N	1.149720	1	0.08975	P	0	0.06538	N	2.32	0.16640	T	-1.11	0.33598	N	0.166	0.17553	-0.9994	0.30087	T	0.032	0.13548	T	9	0.0036144853	0.00066	T	0.010835	0.27810	T	0.058	0.16647	.	.	0.0675242888579	0.06100	0.10170312442462896	0.10101	0.115592916537	0.13044	0.219845503569	0.01301	T	0.200992	0.55874	T	-0.600371	0.00145	T	-0.639159	0.09731	T	0.00866660003978706	0.00106	T	0.266673	0.04389	T	0.0574799	0.11443	0.039536245	0.04069	0.041540567	0.06135	0.054416746	0.09354	-7.822	0.59851	D	.	.	0.116	0.23325	B	.;.	.;.	0.264295	0.06425	2.895	0.4997288410233327	0.04303	0.19142	0.20544	N	AEFGBI	0.195332	0.32238	N	-1.03105710688041	0.07964	0.3718024	-1.02007583571907	0.09344	0.4643434	0.99997746167723	0.50053	0.732398	0.92422	0	0.624146	0.53433	0	0.743671	0.96076	0	0.59522	0.37078	0	.	.	6.07	3.61	0.40494	0.451000	0.21492	0.131000	0.15046	-2.029000	0.00430	0.009000	0.18154	0.000000	0.08366	0.011000	0.09372	0.4935:0.1278:0.0:0.3787	6.622	0.22004	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	19828.4	33	chr5	83539905	.	T	G	19828.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.45;DP=1293;ExcessHet=1.0516;FS=0;InbreedingCoeff=-0.0101;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=0.896;SOR=0.693	GT:AD:DP:GQ:PL	0/1:89,87:176:99:2259,0,2311	9	0	1	0
chr5	90694338	90694338	C	T	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon33:c.C7582T:p.P2528S	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1483	38	1	0	40	0.0133067	.	.	.	55542	Meniere_disease|Usher_syndrome_type_2C|not_provided|not_specified	MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000|MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	.	0.0028	0.00399361	0.0043	0.0005	0.0017	0	0.0008	0.0039	0.0011	0.0141	0.0039909	617	154602	rs201733037	0.0037	0.0037	0.0033	0.0040	0.0156	0.0036	0.0036	0.0149	0.0146	0.0003	0.0024	0.0004	2.519e-05	0.0010	0.0104	0.0032	0.0036	0.0156	0.0027	0.0027	0.0025	0.0030	0.0166	0.0025	0.0024	0.0136	0.0126	0.0004	0	0.0021	0	0	0.0011	0	0.0039	0.0033	0.0166	0.111	0.29029	T	0.144	0.33109	T	0.507	0.37264	P	0.184	0.35999	B	0.000000	0.84330	D	0.046699	0.986846	0.40495	D	.	.	.	1.31	0.35405	T	-2.08	0.47514	N	0.2	0.22098	-1.0927	0.05097	T	0.070	0.28445	T	10	0.0103443265	0.00231	T	.	.	.	0.096	0.27654	.	.	0.641703553165	0.63874	0.5525428449244084	0.55180	0.127368391803	0.14354	0.447906136513	0.31658	T	0.096222	0.39781	T	-0.409726	0.01996	T	-0.348996	0.39319	T	0.0122455829645071	0.00197	T	0.916108	0.70062	D	0.14991482	0.34154	0.1691465	0.38927	0.17034227	0.37603	0.17411672	0.39783	-6.526	0.50487	T	.	.	0.194	0.41526	B	.;.;.	.;.;.	2.444560	0.31468	18.75	0.99330543755661027	0.59738	0.89735	0.50392	D	AEFGBI	0.448496	0.50370	N	0.190834199367653	0.50758	3.26293	0.349605618999404	0.58483	4.019118	0.993710333582082	0.33326	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	2.796000	0.47562	4.405000	0.43261	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1424:0.8576:0.0:0.0	15.0	0.71121	605	0.67457	.;.;Na-Ca exchanger/integrin-beta4	.	.	.	.	.	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	0.009567	0.000000	0.008152	0.005848	0.000000	0.008621	0.006098	0.022727	0.05	1968.43	81	chr5	90694338	.	C	T	1968.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.373;DP=636;ExcessHet=0;FS=7.056;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=1.22;SOR=1.203	GT:AD:DP:GQ:PL	0/1:82,73:155:99:1980,0,2274	9	0	1	0
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	.	.	.	.	.	.	.	.	0.2222	910.05	51	chr5	102270770	.	G	A	910.05	.	AC=4;AF=0.222;AN=18;BaseQRankSum=0.065;DP=424;ExcessHet=1.5895;FS=179.287;InbreedingCoeff=-0.291;MLEAC=4;MLEAF=0.222;MQ=60;MQRankSum=0;QD=4.92;ReadPosRankSum=1.44;SOR=6.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,21:54:99:0|1:102270769_T_C:337,0,448:102270769	5	0	4	1
chr5	112194584	112194584	G	A	exonic	EPB41L4A	.	nonsynonymous SNV	EPB41L4A:NM_001347887:exon17:c.C1486T:p.R496W,EPB41L4A:NM_022140:exon17:c.C1486T:p.R496W	.	439	1079	4	0	0	4	0.00185014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.0840353226501	0.0004	0.000599042	0.0001	0.0011	9.121e-05	0	0	4.863e-05	0	6.541e-05	0.0001164	18	154602	rs199768543	7.983e-05	8.758e-05	8.156e-05	7.808e-05	0.0008	6.765e-05	6.292e-05	0.0006	0.0005	0.0008	0.0002	0	0	0	0.0002	4.92e-05	0.0002	0.0001	0.0003	0.0003	0.0004	0.0003	0.0008	0.0003	0.0002	0.0006	0.0005	0.0008	0	0.0003	0	0	0	0	0.0001	0.0005	0.0004	0.0	0.91255	D	0.002	0.79402	D	0.999	0.77913	D	0.828	0.59497	P	0.000017	0.62929	D	0.065388	0.983642	0.40041	D	1.845	0.48678	L	-1.91	0.84701	D	-4.05	0.74504	D	0.5	0.53269	0.616	0.92110	D	0.735	0.90930	D	10	0.22689167	0.39555	T	0.084035	0.74243	D	0.385	0.70194	.	.	0.961667707463	0.96125	0.5451658945568967	0.54442	0.269474927048	0.29467	0.736009657383	0.72386	T	0.123883	0.44855	T	-0.19031	0.22213	T	-0.102492	0.63204	T	0.182369809544887	0.19384	T	0.966903	0.87955	D	0.59874284	0.72624	0.49327394	0.70690	0.59874284	0.72625	0.49327394	0.70691	-7.23	0.55696	T	0.5866109019974963	0.65341	0.175	0.39982	B	.;.	.;.	5.071615	0.84591	28.4	0.99925221525139807	0.99042	0.96591	0.69909	D	AEFBI	0.668602	0.63633	D	0.706726145326864	0.80075	7.214285	0.676757007728198	0.80615	7.338876	0.99999898016427	0.74766	0.651	0.46895	0	0.610034	0.51514	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.08	5.08	0.68373	4.030000	0.56971	7.466000	0.59102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	15.505	0.75461	379	0.83778	.;.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	3344.43	43	chr5	112194584	.	G	A	3344.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.41;DP=509;ExcessHet=0;FS=1.891;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.9;ReadPosRankSum=-2.326;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,88:177:99:0|1:112194584_G_A:3356,0,3468:112194584	9	0	1	0
chr5	112839514	112839514	T	A	exonic	APC	.	nonsynonymous SNV	APC:NM_001127511:exon14:c.T3866A:p.I1289K,APC:NM_001354897:exon15:c.T3950A:p.I1317K,APC:NM_001354899:exon15:c.T3836A:p.I1279K,APC:NM_001354901:exon15:c.T3743A:p.I1248K,APC:NM_001354902:exon15:c.T3647A:p.I1216K,APC:NM_001354905:exon15:c.T3440A:p.I1147K,APC:NM_000038:exon16:c.T3920A:p.I1307K,APC:NM_001354895:exon16:c.T3920A:p.I1307K,APC:NM_001354898:exon16:c.T3845A:p.I1282K,APC:NM_001354900:exon16:c.T3797A:p.I1266K,APC:NM_001354903:exon16:c.T3617A:p.I1206K,APC:NM_001354904:exon16:c.T3542A:p.I1181K,APC:NM_001127510:exon17:c.T3920A:p.I1307K,APC:NM_001354896:exon17:c.T3974A:p.I1325K,APC:NM_001354906:exon17:c.T3071A:p.I1024K	Adenoma, periampullary, somatic (3);Adenomatous polyposis coli, Autosomal dominant;Brain tumor-polyposis syndrome 2, Autosomal dominant;Colorectal cancer, somatic;Desmoid disease, hereditary, Autosomal dominant;Gardner syndrome, Autosomal dominant;Gastric cancer, somatic;Hepatoblastoma, somatic	1	1508	12	1	0	14	0.00462046	.	.	YES	15861	Familial_colorectal_cancer|Familial_multiple_polyposis_syndrome|Colorectal_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|Familial_adenomatous_polyposis_1|Colorectal_cancer,_susceptibility_to|.|Breast_cancer,_susceptibility_to|Breast_carcinoma|Diffuse_midline_glioma,_H3_K27-altered|not_provided|Carcinoma_of_colon|APC-Associated_Polyposis_Disorders	MONDO:MONDO:0023113,MedGen:CN280943|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100,Orphanet:733|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C1858438|.|MedGen:C3469522|Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MedGen:C5669877|MedGen:C3661900|MONDO:MONDO:0002032,MedGen:C0699790|MedGen:CN239210	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|association|risk_factor	.	.	.	.	.	.	.	.	0.233	0.132984092285	0.0011	.	0.0017	0	0.0009	0	0	0.0027	0.0033	0.0009	0.0001811	28	154602	rs1801155	0.0012	0.0012	0.0012	0.0013	0.0220	0.0012	0.0012	0.0189	0.0177	0.0002	0.0006	0.0370	0	0	0.0220	0.0004	0.0033	0.0005	0.0013	0.0013	0.0014	0.0011	0.0008	0.0011	0.0011	0.0005	0.0004	4.816e-05	0	0.0006	0.0354	0	0	0.0136	0.0006	0.0028	0.0008	0.086	0.32610	T	0.694	0.05844	T	0.012	0.16265	B	0.006	0.12133	B	0.106984	0.19590	N	0.581060	0.985209	0.40251	D	1.1	0.28011	L	-2.58	0.89757	D	-0.08	0.08187	N	0.212	0.26957	-0.5369	0.67281	T	0.426	0.76969	T	9	0.007214457	0.00164	T	0.132984	0.81534	D	0.233	0.53499	.	.	0.877573215991	0.87637	0.6444917115310903	0.64384	.	.	0.386195063591	0.23132	T	0.445146	0.78828	T	-0.273232	0.11399	T	-0.205789	0.54097	T	0.0072739377223775	0.00083	T	0.60444	0.22695	T	0.07446869	0.16713	0.09694298	0.23055	0.0767068	0.17363	0.11784467	0.28446	-2.243	0.04254	T	0.0948030854518334	0.06384	0.141	0.30997	B	.;.	.;.	1.181042	0.15714	12.05	0.83511330178036025	0.14766	0.93968	0.59717	D	AEDBCI	0.341022	0.43764	N	-0.294488063035768	0.29361	1.627	-0.105413343103916	0.35171	2.031666	0.0587628207607881	0.15138	0.706548	0.73137	0	0.546412	0.12157	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.73	4.53	0.55009	0.887000	0.27891	2.950000	0.35708	0.665000	0.62972	0.061000	0.21800	1.000000	0.68203	0.876000	0.41813	0.0:0.0723:0.1457:0.782	7.377	0.26007	610	0.67008	.;.	.	.	.	.	.	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	0.020645	0.025253	0.014946	0.055556	0.000000	0.060345	0.003049	0.000000	0.05	1100.43	98	chr5	112839514	.	T	A	1100.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.08;DP=703;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.251;SOR=0.745	GT:AD:DP:GQ:PL	0/1:43,40:83:99:1112,0,1147	9	0	1	0
chr5	119499449	119499449	T	C	exonic	HSD17B4	.	nonsynonymous SNV	HSD17B4:NM_001199292:exon12:c.T1051C:p.S351P,HSD17B4:NM_000414:exon13:c.T1105C:p.S369P,HSD17B4:NM_001292028:exon13:c.T685C:p.S229P,HSD17B4:NM_001374497:exon13:c.T1096C:p.S366P,HSD17B4:NM_001374498:exon13:c.T1105C:p.S369P,HSD17B4:NM_001374499:exon13:c.T778C:p.S260P,HSD17B4:NM_001374501:exon13:c.T694C:p.S232P,HSD17B4:NM_001374502:exon13:c.T694C:p.S232P,HSD17B4:NM_001199291:exon14:c.T1180C:p.S394P,HSD17B4:NM_001292027:exon14:c.T1033C:p.S345P,HSD17B4:NM_001374500:exon14:c.T664C:p.S222P,HSD17B4:NM_001374503:exon14:c.T694C:p.S232P	D-bifunctional protein deficiency, Autosomal recessive;Perrault syndrome 1, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	.	586310	HSD17B4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.0202688819982	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs781084978	3.496e-05	0.0004	3.764e-05	3.226e-05	0.0002	2.69e-05	2.427e-05	2.903e-05	2.574e-05	6.084e-05	0	0	2.53e-05	0	0.0002	3.878e-05	1.684e-05	3.505e-05	1.314e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.242	0.22312	T	0.221	0.33109	T	0.001	0.11197	B	0.004	0.10090	B	0.207218	0.16453	N	0.644539	0.998062	0.24425	N	0.475	0.13142	N	-1.75	0.83495	D	-1.61	0.39314	N	0.175	0.23380	-0.8970	0.48293	T	0.264	0.63501	T	10	0.10314271	0.18945	T	0.020269	0.42829	T	0.119	0.33137	0.362	0.36711	0.824880002343	0.82322	0.5836028072308838	0.58289	0.0727130368711	0.08147	0.366561591625	0.20337	T	0.11293	0.42958	T	-0.102227	0.36054	T	-0.320973	0.42469	T	0.054950729434631	0.06349	T	0.766723	0.42712	T	0.19631228	0.41454	0.13157105	0.31591	0.19631228	0.41454	0.13157105	0.31590	-2.563	0.06901	T	0.09032067692630434	0.05612	0.076	0.05845	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.009926	0.25536	16.80	0.98932034170165739	0.48769	0.68143	0.33691	D	AEFBI	0.580553	0.58092	D	-0.52650164453884	0.21227	1.124927	-0.381430793229907	0.25551	1.40583	0.0673286344376866	0.15422	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.49	-0.052	0.13154	0.865000	0.27595	1.506000	0.26990	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1112:0.0816:0.4962:0.311	4.261	0.10188	920	0.19381	N-terminal of MaoC-like dehydratase;.;N-terminal of MaoC-like dehydratase;.;.;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	88.02	45	chr5	119499449	.	T	C	88.02	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.661;DP=565;ExcessHet=0.2348;FS=190.794;InbreedingCoeff=-0.1028;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.78;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,17:75:8:0|1:119499448_T_C:8,0,1591:119499448	8	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	.	.	.	.	.	.	.	.	0.1	592.14	33	chr5	138386226	.	G	A	592.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.333;DP=782;ExcessHet=0.2348;FS=201.033;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.99;ReadPosRankSum=1.56;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:110,42:152:99:.:.:322,0,2437:.	8	0	2	0
chr5	140360317	140360317	C	G	exonic	SLC4A9	.	nonsynonymous SNV	SLC4A9:NM_001258426:exon1:c.C81G:p.S27R,SLC4A9:NM_001258427:exon1:c.C81G:p.S27R,SLC4A9:NM_001258428:exon1:c.C81G:p.S27R,SLC4A9:NM_031467:exon1:c.C81G:p.S27R	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0103275213927	.	.	7.901e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs765949112	1.301e-05	1.3e-05	1.226e-05	1.377e-05	0.0002	8.32e-06	6.71e-06	8.11e-06	6.43e-06	0	0	0	0	0	0.0002	1.35e-05	1.658e-05	2.332e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.111	0.38450	T	0.874	0.48047	P	0.466	0.46637	P	0.007225	0.01159	N	3.231360	1	0.08975	N	1.28	0.32218	L	-1.22	0.81399	T	-0.91	0.24898	N	0.159	0.18239	-0.6402	0.63137	T	0.336	0.70256	T	10	0.09051636	0.15776	T	0.010328	0.26741	T	0.311	0.63269	0.147	0.05039	0.466059976078	0.46230	0.266010349262904	0.26514	.	.	0.330199480057	0.14965	T	0.126405	0.45276	T	-0.211804	0.19125	T	-0.349683	0.39240	T	0.202151775360107	0.20534	T	0.541246	0.18358	T	0.3246632	0.55030	0.25761533	0.51481	0.3246632	0.55030	0.25761533	0.51480	-4.211	0.27584	T	.	.	0.130	0.33891	B	.;.;.;.	.;.;.;.	0.860931	0.12332	8.873	0.9820884803896891	0.39193	0.03018	0.07894	N	AEFDHI	0.051080	0.08989	N	-1.1917251824511	0.05124	0.2328723	-1.36339669100064	0.03650	0.1707241	0.999852710224996	0.44174	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.66	-4.94	0.02830	-0.756000	0.04882	.	.	-0.445000	0.05159	0.000000	0.06391	0.001000	0.17328	0.030000	0.13115	0.0:0.7128:0.0:0.2872	13.470	0.60731	180	0.92993	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1050.43	34	chr5	140360317	.	C	G	1050.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.58;DP=387;ExcessHet=0;FS=4.248;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.106;SOR=0.542	GT:AD:DP:GQ:PL	0/1:36,44:80:99:1062,0,907	9	0	1	0
chr5	140796576	140796576	C	T	exonic	PCDHA2	.	nonsynonymous SNV	PCDHA2:NM_018905:exon1:c.C1612T:p.R538W,PCDHA2:NM_031495:exon1:c.C1612T:p.R538W,PCDHA2:NM_031496:exon1:c.C1612T:p.R538W	.	403	1117	2	0	0	2	0.000894454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0452488896605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.476e-06	5.472e-06	8.173e-06	2.751e-06	5.396e-06	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	3.314e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	1.0	0.90584	D	0.991	0.79672	D	0.001364	0.39242	U	0.000000	1	0.81001	D	3.095	0.87515	M	0.55	0.54728	T	-7.46	0.94928	D	0.545	0.57177	-0.7275	0.59089	T	0.296	0.66754	T	10	0.6718499	0.70760	D	0.045249	0.61887	D	0.280	0.59740	0.632	0.76810	0.844041732929	0.84254	0.45377438302804834	0.45295	.	.	.	.	.	0.172485	0.52100	T	0.109289	0.65279	D	-0.0807899	0.64846	T	0.995058655738831	0.86751	D	0.937806	0.80045	D	0.52044386	0.68285	0.37292874	0.62491	0.52044386	0.68286	0.37292874	0.62490	-10.344	0.76294	D	.	.	0.137	0.30920	B	.;.;.	.;.;.	3.022628	0.40463	21.2	0.99870437982886673	0.94815	0.25445	0.22701	N	AEFGBI	0.308418	0.41501	N	0.166225215005715	0.49583	3.157053	0.0147241742760962	0.40397	2.410267	0.0235615067605275	0.13516	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.88	2.99	0.33673	-0.020000	0.12466	.	.	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.635000	0.32288	0.4716:0.5284:0.0:0.0	10.999	0.46810	18	0.98631	.;.;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	.	.	.	.	.	.	.	.	0.05	5218.43	38	chr5	140796576	.	C	T	5218.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.495;DP=730;ExcessHet=0;FS=2.921;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.99;MQRankSum=1.19;QD=14.87;ReadPosRankSum=1.07;SOR=0.862	GT:AD:DP:GQ:PL	0/1:146,205:351:99:5230,0,3266	9	0	1	0
chr5	140877285	140877285	G	T	exonic	PCDHA12	.	nonsynonymous SNV	PCDHA12:NM_018903:exon1:c.G1813T:p.A605S,PCDHA12:NM_031864:exon1:c.G1813T:p.A605S	.	417	1073	31	1	0	33	0.0151446	.	.	.	2825288	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.276	0.0197981711577	0.0036	0.00279553	0.0040	0.0006	0.0010	0.0001	0.0020	0.0054	0.0033	0.0055	0.0041073	635	154602	rs76220347	0.0047	0.0047	0.0045	0.0049	0.0073	0.0046	0.0046	0.0056	0.0049	0.0007	0.0018	0.0087	2.519e-05	0.0016	0.0073	0.0051	0.0043	0.0054	0.0036	0.0036	0.0038	0.0034	0.0057	0.0033	0.0032	0.0052	0.0051	0.0006	0	0.0035	0.0086	0	0.0019	0.0034	0.0057	0.0033	0.0041	0.028	0.46129	D	0.052	0.47581	T	1.0	0.90584	D	0.954	0.78396	D	.	.	.	.	1	0.81001	D	1.64	0.41913	L	1.18	0.37746	T	-2.72	0.57920	D	0.213	0.25989	-0.7210	0.59414	T	0.168	0.50794	T	9	0.012135804	0.00262	T	0.019798	0.42253	T	0.276	0.59253	.	.	0.734974895143	0.73260	0.2244262043726725	0.22357	.	.	0.780401825905	0.78988	T	0.077468	0.35662	T	-0.437357	0.01340	T	-0.39909	0.33490	T	0.0216165376161506	0.00866	T	0.855914	0.55285	D	0.23279963	0.46074	0.28168145	0.54151	0.23279963	0.46074	0.28168145	0.54150	-9.022	0.69146	D	.	.	0.160	0.35310	B	.;.	.;.	3.454221	0.48119	22.6	0.99504588519091897	0.68264	0.97990	0.78686	D	AEFDBI	0.708097	0.66262	D	0.558929894263973	0.70627	5.529476	0.493415732069027	0.67551	5.099412	0.999999998772093	0.74766	0.475244	0.09938	2	0.588015	0.36545	0	0.641878	0.46077	1	0.562822	0.20929	0	.	.	4.71	4.71	0.59010	3.147000	0.50335	.	.	0.590000	0.31872	0.998000	0.41325	0.003000	0.18671	0.787000	0.37188	0.0:0.0:1.0:0.0	17.27	0.86984	67	0.97183	.;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	0.009063	0.000000	0.010870	0.002924	0.000000	0.000000	0.015244	0.018939	0.05	4624.43	39	chr5	140877285	.	G	T	4624.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.42;DP=711;ExcessHet=0;FS=0.809;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=1.2;SOR=0.754	GT:AD:DP:GQ:PL	0/1:179,168:347:99:4636,0,4333	9	0	1	0
chr5	141201807	141201807	C	A	exonic	PCDHB11	.	nonsynonymous SNV	PCDHB11:NM_018931:exon1:c.C2033A:p.P678Q	.	168	1321	32	1	0	34	0.0127055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0027	0.00399361	0.0039	0.0004	0.0004	0.0001	0.0027	0.0040	0.0067	0.0097	0.0035381	547	154602	rs141800205	0.0040	0.0039	0.0036	0.0043	0.0102	0.0039	0.0038	0.0096	0.0094	0.0003	0.0016	0.0069	0	0.0020	0.0085	0.0038	0.0036	0.0102	0.0033	0.0033	0.0031	0.0036	0.0087	0.0031	0.0030	0.0066	0.0059	0.0005	0	0.0039	0.0078	0	0.0024	0.0102	0.0047	0.0014	0.0087	0.201	0.20306	T	0.207	0.35840	T	0.013	0.16609	B	0.02	0.19048	B	.	.	.	.	1	0.08975	N	1.02	0.25474	L	0.8	0.48769	T	-3.23	0.65056	D	0.087	0.11769	-0.9282	0.44400	T	0.088	0.34078	T	9	0.0062874258	0.00142	T	.	.	.	0.056	0.15993	.	.	0.424430313326	0.42057	0.21207624426873645	0.21123	0.218745738451	0.24414	0.432624101639	0.29567	T	0.027678	0.20215	T	-0.618637	0.00112	T	-0.652011	0.08814	T	0.00542685166688873	0.00059	T	0.467153	0.14032	T	0.035338838	0.04141	0.072137386	0.15528	0.035338838	0.04141	0.072137386	0.15528	-9.301	0.70254	D	.	.	0.078	0.08368	B	.;.	.;.	1.146609	0.15341	11.78	0.54837505654297913	0.05218	0.01440	0.04836	N	AEFDI	0.031168	0.03277	N	-1.00260200278716	0.08550	0.401287	-1.15715369112361	0.06640	0.3203102	0.00276586595352238	0.09691	0.490419	0.18000	1	0.573888	0.26702	0	0.667716	0.60424	0	0.613276	0.41899	0	.	.	2.77	-2.14	0.06725	-1.779000	0.01874	.	.	0.299000	0.18918	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.4176:0.2069:0.1464:0.229	0.535	0.00593	662	0.61715	.;.	.	.	.	.	.	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	0.005495	0.000000	0.004076	0.004202	0.000000	0.000000	0.013072	0.007937	0.05	1690.43	102	chr5	141201807	.	C	A	1690.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.08;DP=717;ExcessHet=0;FS=1.529;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.86;MQRankSum=-0.937;QD=15.51;ReadPosRankSum=0.871;SOR=0.877	GT:AD:DP:GQ:PL	0/1:52,57:109:99:1702,0,1295	9	0	1	0
chr5	141303076	141303076	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G790C:p.A264P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547	0.02593074321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.109	0.37449	T	0.064	0.23455	B	0.182	0.35926	B	0.000001	0.62929	D	0.056937	0.999826	0.49512	D	2.79	0.81396	M	-1.37	0.80214	T	-3.45	0.67589	D	0.845	0.84090	-0.1835	0.78092	T	0.535	0.82801	D	10	0.9284315	0.92186	D	0.025931	0.48873	D	0.547	0.81193	0.791	0.91291	0.884658337928	0.88352	0.7290688332212876	0.72851	0.262950019928	0.28855	0.449340850115	0.31854	T	0.479776	0.80904	T	0.23827	0.77498	D	0.104482	0.77205	D	0.957836449146271	0.65112	D	0.89491	0.63503	D	0.762455	0.81598	0.80573183	0.88630	0.762455	0.81600	0.80573183	0.88631	-5.444	0.41340	T	.	.	0.175	0.38390	B	.	.	3.021983	0.40446	21.2	0.9858229229097939	0.43258	0.95743	0.65965	D	AEFBI	0.575375	0.57779	D	-0.216525908424601	0.32454	1.830551	-0.301020416512166	0.28067	1.561956	0.0104774781031773	0.12031	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.04	0.19220	3.425000	0.52535	.	.	0.596000	0.33519	1.000000	0.71638	0.457000	0.24983	0.947000	0.49155	0.0:0.6922:0.0:0.3078	7.424	0.26258	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	.	.	.	.	.	.	.	.	0.05	553.43	34	chr5	141303076	.	C	G	553.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-6.971;DP=550;ExcessHet=0;FS=215.001;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.78;ReadPosRankSum=1.84;SOR=7.978	GT:AD:DP:GQ:PL	0/1:163,36:216:99:565,0,5745	9	0	1	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	.	.	.	.	.	.	.	.	0.25	3708.82	169	chr5	141303079	.	C	G	3708.82	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-4.49;DP=1503;ExcessHet=2.8389;FS=221.973;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=4.1;ReadPosRankSum=2.36;SOR=10.911	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,58:221:99:0|1:141303079_C_G:1032,0,5728:141303079	4	0	4	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	.	.	.	.	.	.	.	.	0.4444	5820.05	170	chr5	141303081	.	A	G	5820.05	.	AC=8;AF=0.444;AN=18;BaseQRankSum=-3.609;DP=2013;ExcessHet=10.3881;FS=210.687;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.79;ReadPosRankSum=1.97;SOR=12.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,58:218:99:0|1:141303079_C_G:1041,0,5663:141303079	1	0	8	1
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G,PCDHGB5:NM_032099:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1816.95	39	chr5	141400463	.	A	G	1816.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-6.363;DP=2409;ExcessHet=7.0302;FS=249.381;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=59.97;MQRankSum=0;QD=0.97;ReadPosRankSum=0.964;SOR=12.843	GT:AD:DP:GQ:PL	0/1:198,87:285:99:251,0,3668	3	0	7	0
chr5	141415363	141415363	C	T	exonic	PCDHGA10	.	stopgain	PCDHGA10:NM_018913:exon1:c.C2188T:p.Q730X,PCDHGA10:NM_032090:exon1:c.C2188T:p.Q730X	.	9	1501	12	0	0	12	0.00398142	.	.	.	709677	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0034	0.00239617	0.0036	0.0008	0.0022	0.0001	0.0045	0.0042	0.0022	0.0055	0.003454	534	154602	rs62378454	0.0046	0.0046	0.0046	0.0046	0.0056	0.0045	0.0045	0.0052	0.0050	0.0006	0.0026	7.653e-05	0.0001	0.0024	0.0014	0.0052	0.0038	0.0056	0.0030	0.0030	0.0029	0.0031	0.0060	0.0028	0.0027	0.0043	0.0037	0.0009	0	0.0044	0.0006	0	0.0037	0.0034	0.0040	0.0047	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	N	.	.	.	.	.	.	.	.	.	0.051	0.02559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0394185	0.56969	T	0.28535	0.87411	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	7.901541	0.96973	36	0.99270880753810808	0.57559	0.22141	0.21645	N	AEFBI	0.129108	0.24714	N	0.396851916335136	0.61251	4.32373	0.108271646503851	0.44970	2.768699	0.997505839034932	0.35692	0.695654	0.57023	0	0.296712	0.05252	1	0.723109	0.80598	0	0.620976	0.48614	0	.	.	5.32	3.4	0.38031	1.555000	0.35884	.	.	0.596000	0.33519	0.134000	0.23411	0.000000	0.08366	0.093000	0.17941	0.1531:0.6995:0.1474:0.0	10.238	0.42470	819	0.41190	.;Cadherin, cytoplasmic C-terminal 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	0.004757	0.005051	0.002717	0.004098	0.000000	0.008621	0.000000	0.007576	0.05	3260.43	99	chr5	141415363	.	C	T	3260.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.308;DP=853;ExcessHet=0;FS=0.448;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.94;MQRankSum=-1.059;QD=12.4;ReadPosRankSum=1.32;SOR=0.657	GT:AD:DP:GQ:PL	0/1:140,123:263:99:3272,0,3636	9	0	1	0
chr5	141419169	141419169	C	T	exonic	PCDHGB7	.	nonsynonymous SNV	PCDHGB7:NM_018927:exon1:c.C1310T:p.T437I,PCDHGB7:NM_032101:exon1:c.C1310T:p.T437I	.	426	1091	5	0	0	5	0.00228624	.	.	.	2766893	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00905632394247	.	.	0.0001	0	0	0	0	0.0002	0	6.058e-05	9.06e-05	14	154602	rs746258255	4.721e-05	4.72e-05	4.493e-05	4.951e-05	0.0003	3.794e-05	3.476e-05	0.0001	0.0001	0	4.472e-05	0	0	0	0.0003	3.598e-05	0.0001	0.0002	2.625e-05	2.624e-05	0	5.369e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	0.386	0.10980	T	0.459	0.13103	T	0.046	0.24543	B	0.073	0.28987	B	0.449722	0.12522	U	0.567660	1	0.08975	N	1.74	0.45129	L	4.64	0.01799	T	-3.15	0.64132	D	0.063	0.04668	-0.9002	0.47973	T	0.006	0.02018	T	10	0.058862776	0.06986	T	0.009056	0.23845	T	0.016	0.02506	0.364	0.37036	0.251116650651	0.24721	0.09640246046521915	0.09572	1.00116411819	0.74409	.	.	.	0.094373	0.39404	T	-0.473332	0.00810	T	-0.681017	0.06922	T	0.0512532332185246	0.05719	T	0.019898	0.00166	T	0.13628627	0.31599	0.11523639	0.27816	0.13628627	0.31599	0.11523639	0.27816	-5.147	0.38398	T	.	.	0.112	0.23113	B	.;.	.;.	1.089835	0.14734	11.28	0.854666930428432	0.15910	0.06311	0.12307	N	AEFDBI	0.186462	0.31377	N	-0.881254326171808	0.11289	0.5439997	-0.879611421659324	0.12577	0.6477898	0.999132229214966	0.38535	0.676563	0.55306	0	0.633656	0.55848	0	0.493711	0.08198	1	0.600526	0.37237	0	.	.	5.48	1.54	0.22290	-0.327000	0.07998	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.960000	0.51673	0.0:0.5632:0.297:0.1398	8.751	0.33774	819	0.41190	.;Cadherin-like|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	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	3011.43	38	chr5	141419169	.	C	T	3011.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.54;DP=637;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.429;SOR=0.725	GT:AD:DP:GQ:PL	0/1:110,114:224:99:3023,0,2773	9	0	1	0
chr5	149980428	149980428	C	T	exonic	SLC26A2	.	nonsynonymous SNV	SLC26A2:NM_000112:exon3:c.C835T:p.R279W	Achondrogenesis Ib, Autosomal recessive;Atelosteogenesis II, Autosomal recessive;De la Chapelle dysplasia, Autosomal recessive;Diastrophic dysplasia, Autosomal recessive;Diastrophic dysplasia, broad bone-platyspondylic variant, Autosomal recessive;Epiphyseal dysplasia, multiple, 4, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	YES	19128	Inborn_genetic_diseases|3MC_syndrome_2|Sulfate_transporter-related_osteochondrodysplasia|Diastrophic_dysplasia|Atelosteogenesis_type_II|Multiple_epiphyseal_dysplasia_type_4|Achondrogenesis,_type_IB|not_provided|Connective_tissue_disorder|SLC26A2-related_disorder	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009927,MedGen:C0796279,OMIM:265050,Orphanet:293843,Orphanet:2998|MedGen:CN120497|MONDO:MONDO:0009107,MedGen:C0220726,OMIM:222600,Orphanet:628|MONDO:MONDO:0009727,MedGen:C1850554,OMIM:256050,Orphanet:56304|MONDO:MONDO:0009189,MedGen:C1847593,OMIM:226900,Orphanet:93307|MONDO:MONDO:0010966,MedGen:C0265274,OMIM:600972,Orphanet:932,Orphanet:93298|MedGen:C3661900|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:CN239404	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.917	0.319024439216	0.0012	0.00139776	0.0008	0.0002	0.0005	0	0.0002	0.0013	0	6.058e-05	0.0010543	163	154602	rs104893915	0.0015	0.0015	0.0015	0.0014	0.0017	0.0014	0.0014	0.0017	0.0016	0.0002	0.0011	0.0021	2.519e-05	0.0002	0.0002	0.0017	0.0012	3.478e-05	0.0011	0.0011	0.0010	0.0011	0.0026	0.0009	0.0009	0.0019	0.0017	0.0002	0	0.0026	0.0029	0	0.0002	0	0.0015	0.0019	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	0.999995	0.58761	A	3.515	0.92918	H	-3.31	0.93835	D	-7.43	0.94843	D	0.897	0.89689	1.074	0.98695	D	0.924	0.97476	D	9	0.5513889	0.64275	D	0.319024	0.91417	D	0.917	0.97852	.	.	0.99485298098	0.99480	0.8936150543626734	0.89331	0.328214677008	0.34941	0.608687281609	0.54130	T	0.880827	0.97501	D	0.173707	0.71463	D	0.471193	0.94020	D	0.48882645368576	0.32221	T	0.966603	0.87805	D	0.96013147	0.97293	0.94549376	0.98121	0.95597315	0.96872	0.9510324	0.98462	-12.298	0.86272	D	0.8209181077385214	0.89393	0.378	0.58322	A	.	.	5.103656	0.85284	28.6	0.99903402979359701	0.97502	0.87833	0.47510	D	AEFBI	0.669480	0.63690	D	0.779539363280535	0.84809	8.392989	0.689766706484121	0.81603	7.565086	0.999999973246893	0.74766	0.706298	0.61202	0	0.667123	0.63270	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	3.216000	0.50878	6.022000	0.52807	0.549000	0.26987	0.996000	0.39380	1.000000	0.68203	0.942000	0.48361	0.0:1.0:0.0:0.0	18.611	0.91239	780	0.47616	SLC26A/SulP transporter domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2641.43	39	chr5	149980428	.	C	T	2641.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=525;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=1.36;SOR=0.693	GT:AD:DP:GQ:PL	0/1:98,98:196:99:2653,0,2452	9	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	.	.	.	.	.	.	.	.	0.3125	695.79	120	chr5	154834880	.	G	C	695.79	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-3.947;DP=1265;ExcessHet=2.8389;FS=294.497;InbreedingCoeff=-0.4324;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=0.554;SOR=10.414	GT:AD:DP:GQ:PL	0/1:81,34:124:99:130,0,1513	3	0	5	2
chr5	159323321	159323321	C	T	exonic	IL12B	.	nonsynonymous SNV	IL12B:NM_002187:exon3:c.G97A:p.V33I	Immunodeficiency 29, mycobacteriosis, Autosomal recessive	2	1451	68	1	0	70	0.0235532	.	.	.	455342	Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12B_deficiency|not_provided	MONDO:MONDO:0013954,MedGen:C4013948,OMIM:614890,Orphanet:319558|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.142	.	0.0043	0.00379393	0.0065	0.0010	0.0037	0.0006	0.0116	0.0061	0.0123	0.0145	0.0061642	953	154602	rs3213096	0.0054	0.0054	0.0051	0.0057	0.0186	0.0053	0.0052	0.0157	0.0146	0.0011	0.0037	0.0090	0.0004	0.0083	0.0186	0.0048	0.0069	0.0136	0.0046	0.0047	0.0043	0.0050	0.0099	0.0044	0.0043	0.0077	0.0069	0.0009	0	0.0059	0.0069	0.0006	0.0119	0.0136	0.0052	0.0090	0.0099	0.149	0.24758	T	0.174	0.30045	T	0.002	0.09854	B	0.007	0.12992	B	0.000001	0.84330	D	0.054974	0.998676	0.45259	D	2.255	0.64187	M	1.94	0.22678	T	-0.4	0.13805	N	0.125	0.11769	-1.1033	0.03714	T	0.049	0.20750	T	10	0.0053630173	0.00118	T	.	.	.	0.142	0.37995	.	.	0.329020015101	0.32502	0.5261362391023952	0.52537	0.248504126225	0.27412	0.318446367979	0.13186	T	0.164173	0.50953	T	-0.552734	0.00281	T	-0.56105	0.16279	T	0.00634437416106121	0.00070	T	0.687731	0.29668	T	0.114354566	0.26997	0.07641048	0.16920	0.10463757	0.24737	0.08397647	0.19284	-4.602	0.32197	T	0.3324810881554746	0.43046	0.091	0.13174	B	.	.	1.512208	0.19427	14.26	0.95641778802667776	0.27441	0.51784	0.28977	D	AEFBI	0.092113	0.18652	N	-0.3214034749087	0.28335	1.562097	-0.235318330737127	0.30280	1.703564	0.999998887974361	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.02	5.16	0.70563	1.585000	0.36210	4.066000	0.41626	-0.193000	0.09282	0.909000	0.31653	0.999000	0.35428	0.759000	0.36109	0.0:0.9177:0.0:0.0823	11.460	0.49454	911	0.21964	Immunoglobulin-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	1	0	0	0	0	1	0	0.022681	0.010101	0.021739	0.011696	0.000000	0.008621	0.039877	0.037879	0.05	1347.43	34	chr5	159323321	.	C	T	1347.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.79;DP=455;ExcessHet=0;FS=1.391;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-0.134;SOR=0.884	GT:AD:DP:GQ:PL	0/1:82,55:137:99:1359,0,1886	9	0	1	0
chr5	160644170	160644170	G	A	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366658:exon4:c.C752T:p.T251I,ATP10B:NM_001366654:exon7:c.C968T:p.T323I,ATP10B:NM_001366652:exon8:c.C836T:p.T279I,ATP10B:NM_001366653:exon8:c.C836T:p.T279I,ATP10B:NM_001366655:exon8:c.C836T:p.T279I,ATP10B:NM_001366656:exon8:c.C836T:p.T279I,ATP10B:NM_001366657:exon8:c.C836T:p.T279I,ATP10B:NM_025153:exon9:c.C836T:p.T279I	.	.	.	.	.	.	.	.	.	.	.	3919846	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.891	0.107551588694	.	.	8.282e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs748353572	2.052e-05	2.052e-05	1.089e-05	3.025e-05	0.0005	1.456e-05	1.264e-05	0.0001	7.544e-05	0	0	0	0	0	0.0005	1.529e-05	9.936e-05	4.637e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	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	1	0.81001	D	4.05	0.97045	H	-2.72	0.90622	D	-5.36	0.84811	D	0.82	0.81559	1.097	0.99525	D	0.918	0.97271	D	9	0.8905978	0.88400	D	0.107552	0.78368	D	0.891	0.96873	0.64	0.77687	0.970791389124	0.97048	0.9229731233750007	0.92274	0.460915909934	0.45645	0.745007157326	0.73710	T	0.634932	0.88733	D	0.223802	0.76136	D	0.265227	0.86338	D	0.99712461233139	0.90826	D	0.990644	0.97095	D	0.9399407	0.95242	0.89114356	0.94348	0.9399407	0.95242	0.89114356	0.94349	-11.668	0.83197	D	.	.	0.935	0.85432	P	.;.	.;.	4.979688	0.82472	27.8	0.9992148569993996	0.98787	0.99094	0.91137	D	AEFI	0.932425	0.92276	D	1.00160438616451	0.95792	13.97138	0.887825939149565	0.95019	13.24042	0.999999999942918	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.9	4.9	0.63643	9.478000	0.96869	11.692000	0.94371	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.078	0.86468	854	0.34840	.;.	.	.	.	.	.	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	0.000506	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2182.43	33	chr5	160644170	.	G	A	2182.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.34;DP=524;ExcessHet=0;FS=1.682;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.041;SOR=0.664	GT:AD:DP:GQ:PL	0/1:123,90:213:99:2194,0,2973	9	0	1	0
chr5	169594668	169594668	T	C	exonic	SPDL1	.	nonsynonymous SNV	SPDL1:NM_001329639:exon7:c.T878C:p.M293T,SPDL1:NM_001329640:exon7:c.T878C:p.M293T,SPDL1:NM_001329641:exon7:c.T878C:p.M293T,SPDL1:NM_017785:exon7:c.T878C:p.M293T,SPDL1:NM_001329642:exon8:c.T665C:p.M222T,SPDL1:NM_001329643:exon8:c.T665C:p.M222T	.	438	1080	4	0	0	4	0.00184843	.	.	.	2427324	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.115	0.0242917780512	.	.	0.0002	0	8.797e-05	0	0	0.0003	0	6.408e-05	0.0001423	22	154602	rs201242667	0.0002	0.0002	0.0002	0.0002	0.0064	0.0002	0.0002	0.0048	0.0042	0.0001	0.0006	7.66e-05	0	0	0.0064	0.0002	0.0004	0.0002	0.0001	0.0001	0.0001	0.0002	0.0006	9.143e-05	7.699e-05	0.0003	0.0002	9.622e-05	0	0.0006	0	0	0	0.0034	8.821e-05	0	0.0002	0.007	0.59928	D	0.166	0.30828	T	0.993	0.65571	D	0.773	0.56974	P	0.000015	0.62929	D	0.165341	0.999977	0.53665	D	1.32	0.33002	L	1.41	0.33412	T	-2.69	0.57435	D	0.509	0.54059	-0.9626	0.38684	T	0.155	0.48636	T	10	0.24288839	0.41493	T	0.024292	0.47276	T	0.115	0.32236	0.325	0.30711	0.629465430942	0.62643	0.17869332878485245	0.17788	0.222191019047	0.24755	0.668757796288	0.62660	T	0.093522	0.39230	T	-0.325487	0.06459	T	-0.329471	0.41527	T	0.171907373974495	0.18709	T	0.824517	0.48627	T	0.34167936	0.56413	0.47427112	0.69530	0.34167936	0.56413	0.47427112	0.69531	-6.722	0.51976	T	.	.	0.539	0.66334	A	.	.	4.281905	0.65228	24.8	0.98694801074107452	0.44809	0.98066	0.79310	D	AEFBI	0.645077	0.62111	D	0.599633515674042	0.73153	5.919667	0.619055680765272	0.76325	6.47015	0.999999999999015	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	5.417000	0.66162	7.828000	0.70003	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.154	0.81460	937	0.14592	.	.	.	.	.	.	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	0.007553	0.000000	0.009511	0.020468	0.000000	0.017241	0.000000	0.000000	0.05	1342.43	41	chr5	169594668	.	T	C	1342.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.325;DP=473;ExcessHet=0;FS=2.441;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.308;SOR=1.006	GT:AD:DP:GQ:PL	0/1:56,61:117:99:1354,0,1317	9	0	1	0
chr5	176384092	176384092	G	0	exonic	NOP16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	4619.79	170	chr5	176384092	.	G	*	4619.79	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.94;DP=970;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=6.69;ReadPosRankSum=-0.869;SOR=0.669	GT:AD:DP:GQ:PL	0/1:92,98:190:99:3408,0,3109	8	0	2	0
chr6	3225487	3225487	C	G	exonic	TUBB2B	.	nonsynonymous SNV	TUBB2B:NM_178012:exon4:c.G602C:p.C201S	Polymicrogyria, symmetric or asymmetric, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	YES	168565	Inborn_genetic_diseases|not_specified|TUBB2B-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.275	0.0613303524451	.	.	7.863e-05	0.0001	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs201922441	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	8.964e-05	0.0001	0.0008	7.559e-05	9.375e-05	0.0002	0.0002	0.0003	6.958e-05	0.0004	0.0007	0.0005	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	0.0001	0	0.0003	0.0009	0.0002	0.0002	0	0.0006	0	0.0002	.	.	.	0.017	0.60337	D	0.001	0.07471	B	0.67	0.53116	P	0.002628	0.36208	N	0.241597	1	0.81001	D	3.39	0.91563	M	-0.41	0.69413	T	-7.5	0.95045	D	0.275	0.31140	0.082	0.83851	D	0.549	0.83470	D	10	0.2984606	0.47403	T	0.06133	0.68297	D	0.275	0.59130	0.414	0.45216	0.678660702044	0.67593	0.9700526684229877	0.96993	.	.	0.352989375591	0.18361	T	0.450998	0.79190	T	-0.211677	0.19143	T	-0.277408	0.47068	T	0.367475257719389	0.27700	T	0.451355	0.12777	T	0.849223	0.87278	0.8629339	0.92380	0.849223	0.87280	0.8629339	0.92380	-8.592	0.65036	D	0.5069341803226962	0.58124	0.326	0.54954	B	.	.	1.051836	0.14328	10.91	0.96260038485795019	0.29212	0.94036	0.59919	D	AEFGI	0.647943	0.62294	D	0.160005011352321	0.49285	3.130755	0.177182060528303	0.48600	3.073711	0.999999723471481	0.74766	0.732398	0.92422	0	0.693144	0.66847	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.17	4.27	0.50009	0.973000	0.29020	-4.760000	0.01999	-0.849000	0.02733	1.000000	0.71638	0.000000	0.08366	0.764000	0.36293	0.0:0.8609:0.1391:0.0	15.507	0.75482	843	0.36859	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1076.43	42	chr6	3225487	.	C	G	1076.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.699;DP=541;ExcessHet=0;FS=0.573;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=45.74;MQRankSum=-8.595;QD=5.61;ReadPosRankSum=3.4;SOR=0.732	GT:AD:DP:GQ:PL	0/1:132,60:192:99:1088,0,3412	9	0	1	0
chr6	11104447	11104447	G	C	exonic	ERVFRD-1	.	nonsynonymous SNV	ERVFRD-1:NM_207582:exon2:c.C864G:p.I288M	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00185079784635	0.0015	0.000199681	0.0017	0	0	0	0	0.0025	0	0.0016	0.0007568	117	154602	rs145616782	0.0026	0.0025	0.0027	0.0025	0.0030	0.0025	0.0025	0.0029	0.0029	0.0005	0.0007	0.0022	0	0.0006	0.0004	0.0030	0.0020	0.0015	0.0014	0.0014	0.0015	0.0013	0.0024	0.0013	0.0012	0.0021	0.0020	0.0006	0	0.0003	0.0029	0	0.0005	0	0.0024	0.0024	0.0008	0.028	0.46129	D	0.058	0.46182	T	0.981	0.59675	D	0.746	0.55899	P	.	.	.	.	0.997168	0.43677	D	.	.	.	2.4	0.15608	T	-0.13	0.08971	N	0.141	0.14054	-1.0227	0.22834	T	0.019	0.07800	T	8	0.0111861825	0.00246	T	0.001851	0.03219	T	0.092	0.26621	.	.	0.231873229951	0.22792	0.12292479806086208	0.12218	0.924229016133	0.71572	0.493379116058	0.37907	T	0.038202	0.24756	T	-0.623858	0.00104	T	-0.668089	0.07731	T	0.0138819055127879	0.00264	T	0.442956	0.12306	T	0.2367482	0.46529	0.193315	0.42894	0.2367482	0.46529	0.193315	0.42893	-4.446	0.30176	T	.	.	0.188	0.41249	B	.;.	.;.	1.950237	0.24774	16.52	0.9940333966225241	0.62934	0.10299	0.15844	N	AEFBI	0.058102	0.10877	N	-0.241996626584207	0.31423	1.761883	-0.390096657053382	0.25290	1.389951	0.988911428946702	0.31667	0.556989	0.30585	1	0.487994	0.07600	2	0.547309	0.15389	0	0.567892	0.33627	0	.	.	0.225	0.225	0.14598	0.365000	0.20076	-0.096000	0.11999	0.373000	0.20310	0.946000	0.32893	0.627000	0.25846	0.953000	0.50222	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1380.43	34	chr6	11104447	.	G	C	1380.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.32;DP=452;ExcessHet=0;FS=1.421;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-0.438;SOR=0.537	GT:AD:DP:GQ:PL	0/1:67,59:126:99:1392,0,1597	9	0	1	0
chr6	17625913	17625913	T	C	exonic	NUP153	.	nonsynonymous SNV	NUP153:NM_001278210:exon18:c.A3670G:p.T1224A,NUP153:NM_005124:exon19:c.A3796G:p.T1266A,NUP153:NM_001278209:exon20:c.A3889G:p.T1297A	.	424	1077	20	1	0	22	0.0101103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00373881257193	0.0026	0.000998403	0.0023	0.0007	0.0016	0	0	0.0034	0.0044	0.0013	0.0022445	347	154602	rs142764283	0.0030	0.0030	0.0030	0.0030	0.0227	0.0029	0.0029	0.0195	0.0184	0.0006	0.0023	0.0158	0	0.0001	0.0227	0.0030	0.0042	0.0016	0.0022	0.0022	0.0023	0.0021	0.0031	0.0020	0.0020	0.0024	0.0023	0.0004	0	0.0031	0.0190	0	0	0.0340	0.0027	0.0043	0.0012	0.216	0.25355	T	0.446	0.20228	T	0.001	0.07471	B	0.001	0.04355	B	0.035569	0.24628	N	0.289012	0.838668	0.28661	N	1.525	0.38595	L	3.27	0.06681	T	-0.2	0.10308	N	0.149	0.15187	-0.9048	0.47470	T	0.005	0.01615	T	10	0.0033147037	0.00057	T	0.003739	0.08682	T	0.075	0.21907	.	.	0.48015471723	0.47646	0.18304016958423017	0.18223	0.0320171395657	0.03327	0.294107824564	0.09525	T	0.005033	0.04462	T	-0.659135	0.00064	T	-0.723881	0.04611	T	0.00355768307236987	0.00038	T	0.685431	0.29402	T	0.024468264	0.01281	0.03271688	0.02051	0.024468264	0.01281	0.03271688	0.02051	-4.009	0.23968	T	.	.	0.067	0.02548	B	.;.;.	.;.;.	1.580431	0.20222	14.65	0.90763160139365195	0.20013	0.77682	0.38223	D	AEFBI	0.080933	0.16370	N	-0.519044119768564	0.21465	1.139312	-0.38890080595934	0.25326	1.392126	0.268726895132015	0.18869	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	0.769	0.17638	0.281000	0.18568	0.059000	0.14106	0.665000	0.62972	0.997000	0.40164	0.966000	0.29516	0.995000	0.73285	0.1273:0.2078:0.0:0.6649	4.765	0.12500	478	0.77585	.;.;.	.	.	.	.	.	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	0.017120	0.005051	0.017663	0.032164	0.000000	0.034483	0.009146	0.003788	0.05	946.43	34	chr6	17625913	.	T	C	946.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.203;DP=405;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.061;SOR=0.704	GT:AD:DP:GQ:PL	0/1:51,39:90:99:958,0,1385	9	0	1	0
chr6	26027179	26027179	-	A	exonic	H4C2	.	frameshift insertion	H4C2:NM_003544:exon1:c.73_74insT:p.D25Vfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2985.39	144	chr6	26027179	.	T	TA	2985.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.61;DP=800;ExcessHet=0;FS=10.701;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.56;ReadPosRankSum=0.895;SOR=0.286	GT:AD:DP:GQ:PL	0/1:83,87:170:99:2997,0,2833	9	0	1	0
chr6	26468202	26468202	G	C	exonic	BTN2A1	.	nonsynonymous SNV	BTN2A1:NM_001197233:exon7:c.G1054C:p.V352L,BTN2A1:NM_007049:exon8:c.G1237C:p.V413L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0113536328415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.322	0.13522	T	0.694	0.10429	T	0.04	0.21238	B	0.048	0.24975	B	0.004762	0.33407	N	0.137167	1	0.08975	N	1.02	0.25474	L	0.18	0.60361	T	-1.07	0.27876	N	0.037	0.01135	-1.0282	0.21038	T	0.046	0.19879	T	10	0.103967994	0.19141	T	0.011354	0.28886	T	0.046	0.12618	0.696	0.83313	0.330069100803	0.32608	0.18803037934269917	0.18721	0.073190021523	0.08211	0.332187712193	0.15264	T	0.002426	0.01816	T	-0.263576	0.12485	T	-0.616385	0.11471	T	0.136818408966064	0.15998	T	0.253675	0.03893	T	0.08667843	0.20157	0.044379774	0.05736	0.08667843	0.20157	0.044379774	0.05735	-5.069	0.38799	T	.	.	0.183	0.42346	B	.;.	.;.	1.079481	0.14625	11.18	0.65931159684803642	0.07913	0.17428	0.19833	N	AEFDBI	0.148750	0.27270	N	-1.15219466408591	0.05744	0.2626631	-1.21295770557281	0.05701	0.2723853	0.999415319775984	0.39577	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	0.827	0.17972	-0.311000	0.08164	1.108000	0.24132	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.1419:0.0:0.6121:0.246	3.473	0.07138	637	0.64373	.;SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 1/2, SPRY/PRY 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	.	.	.	.	.	.	.	.	0.05556	132.18	157	chr6	26468202	.	G	C	132.18	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-4.809;DP=1439;ExcessHet=0;FS=162.939;InbreedingCoeff=-0.0907;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=2.89;SOR=9.149	GT:AD:DP:GQ:PL	0/1:184,44:236:99:143,0,3918	8	0	1	1
chr6	27310582	27310582	G	A	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.C1589T:p.A530V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00457380117422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931459915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.025	0.56192	D	.	.	.	.	.	.	0.055521	0.22635	N	0.224693	0.852663	0.28474	N	1.385	0.34509	L	1.94	0.22678	T	-2.33	0.51646	N	0.033	0.00882	-1.0093	0.27136	T	0.021	0.08917	T	10	0.06081772	0.07530	T	0.004574	0.11283	T	0.037	0.09474	0.228	0.15406	0.0401082797425	0.02173	0.28922171704253374	0.28835	.	.	0.254709690809	0.04280	T	0.016631	0.13711	T	-0.321687	0.06761	T	-0.699857	0.05834	T	0.437501043081284	0.30337	T	0.454055	0.12934	T	0.08149508	0.18729	0.12834299	0.30879	0.08149508	0.18729	0.12834299	0.30878	-3.999	0.23789	T	.	.	0.122	0.25364	B	.	.	1.722228	0.21927	15.41	0.99824631958357912	0.90677	0.35993	0.25431	N	AEFDBI	0.065033	0.12662	N	-0.709333535591486	0.15758	0.7970068	-0.707749686166026	0.16767	0.8885786	0.00176535619173559	0.08861	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.41	2.64	0.30504	1.255000	0.32512	1.631000	0.27739	-0.186000	0.09761	0.088000	0.22533	0.006000	0.19429	0.249000	0.23237	0.2046:0.0:0.7954:0.0	7.159	0.24831	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	438.25	75	chr6	27310582	.	G	A	438.25	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-3.12;DP=778;ExcessHet=2.8389;FS=220.933;InbreedingCoeff=-0.4801;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=0.511;SOR=9.641	GT:AD:DP:GQ:PL	0/1:58,24:82:94:94,0,1042	2	0	5	3
chr6	28996364	28996364	A	C	exonic	ZNF311	.	nonsynonymous SNV	ZNF311:NM_001382360:exon7:c.T638G:p.V213G,ZNF311:NM_001010877:exon8:c.T638G:p.V213G,ZNF311:NM_001350637:exon8:c.T494G:p.V165G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0014413553229	.	.	8.612e-06	0	0	0	0	0	0	6.152e-05	6.5e-06	1	154602	rs748685657	2.055e-06	2.052e-06	1.363e-06	2.754e-06	1.16e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.15984	T	0.341	0.17964	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.48	0.05130	T	-1.54	0.37375	N	0.103	0.08646	-0.9118	0.46632	T	0.003	0.00864	T	9	0.04390773	0.03291	T	0.001441	0.02164	T	0.012	0.01476	0.314	0.28935	0.0401082797425	0.02173	0.06358954186880594	0.06297	0.247604859917	0.27312	0.232464656234	0.02155	T	0.007171	0.06585	T	-0.405384	0.02133	T	-0.719453	0.04823	T	0.0399870666030546	0.03687	T	.	.	.	0.046227723	0.07701	0.06778981	0.14072	0.046227723	0.07700	0.06778981	0.14071	-3.063	0.10876	T	.	.	0.077	0.06617	B	.	.	0.352755	0.07257	3.859	0.23857183976963381	0.01028	0.05095	0.10894	N	AEFBI	0.083513	0.16920	N	-1.83546514798207	0.00464	0.01996958	-1.83698900867038	0.00648	0.02880207	0.997372924358631	0.35551	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	3.11	-0.731	0.10589	-1.835000	0.01786	0.428000	0.18294	-2.768000	0.00193	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4676:0.4143:0.1181:0.0	4.335	0.10522	749	0.51929	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1595.43	41	chr6	28996364	.	A	C	1595.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.955;DP=520;ExcessHet=0;FS=2.086;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=0.802;SOR=0.596	GT:AD:DP:GQ:PL	0/1:82,63:145:99:1607,0,2095	9	0	1	0
chr6	29588323	29588323	C	T	exonic	OR2H2	.	nonsynonymous SNV	OR2H2:NM_007160:exon1:c.C379T:p.P127S	.	422	1083	17	0	0	17	0.00778745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	.	0.0009	0.00479233	0.0030	0	0.0003	0.0023	0	0.0015	0.0023	0.0138	0.0026067	403	154602	rs36211077	0.0019	0.0019	0.0015	0.0024	0.0146	0.0019	0.0018	0.0139	0.0137	0.0001	0.0004	0.0015	0.0004	5.728e-05	0.0031	0.0012	0.0018	0.0146	0.0012	0.0012	0.0012	0.0012	0.0101	0.0011	0.0010	0.0079	0.0071	0.0001	0	0.0004	0.0012	0.0043	9.425e-05	0.0034	0.0013	0.0014	0.0101	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000989	0.40743	D	0.000000	1	0.81001	D	4.22	0.97912	H	4.61	0.01851	T	-7.67	0.95542	D	0.346	0.38746	-1.0129	0.26007	T	0.039	0.16634	T	10	0.0117381215	0.00255	T	.	.	.	0.291	0.61040	.	.	0.564243864375	0.56087	0.5850661173529549	0.58436	0.738653638115	0.63117	0.254161566496	0.04219	T	0.013843	0.11897	T	-0.172006	0.24932	T	-0.00817539	0.69804	D	0.178155012835985	0.19118	T	.	.	.	0.4455353	0.63758	0.5166225	0.72071	0.4455353	0.63759	0.5166225	0.72072	-10.746	0.78246	D	.	.	0.422	0.60762	A	.;.	.;.	3.317100	0.45604	22.2	0.99885168419827053	0.96049	0.98101	0.79606	D	AEFDGBI	0.569187	0.57407	D	0.706003665860748	0.80028	7.203922	0.525141837499823	0.69689	5.396006	0.999999998557044	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.536957	0.11973	0	0.542086	0.14980	0	.	.	4.29	4.29	0.50359	4.703000	0.61511	.	.	0.549000	0.26987	1.000000	0.71638	0.012000	0.20211	0.071000	0.16709	0.0:1.0:0.0:0.0	15.656	0.76888	846	0.36215	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	0.007081	0.000000	0.002717	0.005319	0.000000	0.008621	0.015244	0.015152	0.1	6571.12	36	chr6	29588323	.	C	T	6571.12	.	AC=2;AF=0.1;AN=20;DP=561;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.59;SOR=0.902	GT:AD:DP:GQ:PL	1/1:0,208:208:99:6594,624,0	9	1	0	0
chr6	30730467	30730467	C	A	exonic	FLOT1	.	nonsynonymous SNV	FLOT1:NM_001318875:exon10:c.G906T:p.E302D,FLOT1:NM_005803:exon11:c.G1050T:p.E350D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00272033828316	.	0.000399361	0.0002	0	0	0	0	1.542e-05	0	0.0013	0.0001423	22	154602	rs530314265	7.172e-05	7.524e-05	3.696e-05	0.0001	0.0011	6.028e-05	5.633e-05	0.0009	0.0009	0	0	0	0	0	0.0002	0	0.0001	0.0011	3.938e-05	3.937e-05	5.138e-05	2.684e-05	0.0012	1.714e-05	1.128e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	1.0	0.00964	T	0.636	0.07059	T	0.0	0.02946	B	0.002	0.06944	B	0.000007	0.62929	D	0.107189	0.998048	0.44449	D	0.615	0.15706	N	1.92	0.23082	T	0.4	0.03463	N	0.253	0.28616	-0.9389	0.42790	T	0.007	0.02558	T	10	0.0068410933	0.00155	T	0.00272	0.05608	T	0.143	0.38195	0.304	0.27325	0.242244723065	0.23846	0.5902072025650039	0.58950	0.135862692089	0.15322	0.464224547148	0.33889	T	0.111673	0.42735	T	-0.60304	0.00140	T	-0.69535	0.06083	T	0.0576298609375954	0.06791	T	.	.	.	0.1898284	0.40542	0.26664233	0.52512	0.1898284	0.40542	0.26664233	0.52511	-3.824	0.21164	T	.	.	0.092	0.13597	B	.	.	1.893469	0.24047	16.25	0.34485208847217164	0.02112	0.22662	0.21822	N	AEFDBCI	0.122106	0.23709	N	-0.783718883233384	0.13734	0.6787431	-0.607067134887485	0.19311	1.035517	0.999757456812881	0.42595	0.722319	0.85440	0	0.698795	0.70079	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	4.68	2.89	0.32713	-1.108000	0.03423	.	.	0.599000	0.40250	0.006000	0.17386	0.887000	0.27779	0.987000	0.62547	0.1965:0.6033:0.0:0.2002	3.703	0.07920	889	0.27310	Flotillin, 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	.	.	.	.	.	.	.	.	0.05	1070.43	33	chr6	30730467	.	C	A	1070.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.48;DP=361;ExcessHet=0;FS=2.562;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.46;ReadPosRankSum=1.03;SOR=1.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,28:58:99:0|1:30730467_C_A:1082,0,1132:30730467	9	0	1	0
chr6	30730471	30730471	T	A	exonic	FLOT1	.	nonsynonymous SNV	FLOT1:NM_001318875:exon10:c.A902T:p.Q301L,FLOT1:NM_005803:exon11:c.A1046T:p.Q349L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0104894847517	.	0.000399361	0.0001	0	0	0	0	0	0	0.0013	0.0001229	19	154602	rs546831217	7.095e-05	7.251e-05	3.693e-05	0.0001	0.0011	5.954e-05	5.561e-05	0.0009	0.0009	0	0	0	0	0	0.0002	0	0.0001	0.0011	3.938e-05	3.937e-05	5.139e-05	2.684e-05	0.0012	1.714e-05	1.128e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.008	0.58626	D	0.143	0.33219	T	0.462	0.36386	P	0.199	0.36804	B	0.000001	0.62929	D	0.056648	0.998779	0.45423	D	1.65	0.42232	L	1.88	0.23884	T	-3.56	0.68880	D	0.455	0.49237	-1.0612	0.11459	T	0.052	0.21999	T	10	0.04647672	0.03843	T	0.010489	0.27088	T	0.117	0.32689	0.373	0.38503	0.500488203797	0.49686	0.7600854029981691	0.75956	0.178225233787	0.20055	0.365280270576	0.20152	T	0.539357	0.84199	D	-0.392028	0.02610	T	-0.392246	0.34289	T	0.245464527468686	0.22668	T	.	.	.	0.61035323	0.73247	0.40333706	0.64791	0.61035323	0.73248	0.40333706	0.64791	-11.567	0.82678	D	.	.	0.291	0.52260	B	.	.	3.890007	0.56592	23.8	0.99135012380746901	0.53356	0.77683	0.38224	D	AEFDBCI	0.402224	0.47640	N	0.204672702499383	0.51425	3.323858	0.259394886993974	0.53186	3.488769	0.999999723637231	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	4.68	4.68	0.58319	1.464000	0.34898	.	.	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	12.400	0.54740	889	0.27310	Flotillin, 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	.	.	.	.	.	.	.	.	0.05	1064.43	33	chr6	30730471	.	T	A	1064.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.751;DP=369;ExcessHet=0;FS=2.522;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.74;ReadPosRankSum=1.63;SOR=1.244	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,28:60:99:0|1:30730467_C_A:1076,0,1175:30730467	9	0	1	0
chr6	31026275	31026275	A	0	exonic	MUC22	.	.	.	.	442	915	59	11	95	176	0.0423862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	6052.9	520	chr6	31026275	.	A	*	6052.9	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.832;DP=4129;ExcessHet=0.0405;FS=2.444;InbreedingCoeff=0.375;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=5.13;ReadPosRankSum=0.308;SOR=0.801	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:327,122:449:99:0|1:31026245_ACCACAGGCT_A:4118,0,13363:31026245	8	1	1	0
chr6	31029888	31029888	A	C	exonic	MUC22	.	nonsynonymous SNV	MUC22:NM_001198815:exon3:c.A4457C:p.N1486T,MUC22:NM_001318484:exon3:c.A4466C:p.N1489T,MUC22:NM_001322469:exon4:c.A4466C:p.N1489T	.	424	1086	12	0	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0493182997926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1286634783	0.0011	0.0027	0.0010	0.0012	0.0019	0.0011	0.0010	0.0016	0.0014	0.0002	0.0019	0.0013	0.0013	0.0066	0.0011	0.0008	0.0015	0.0017	0.0002	0.0011	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	4.946e-05	0	0.0003	0	0	0.0005	0.0035	0.0002	0	0.0002	0.0	0.91255	D	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	2.59	0.13317	T	-0.93	0.24898	N	0.102	0.08506	.	.	.	.	.	.	.	0.067564785	0.09433	T	0.049318	0.63758	D	.	.	.	.	0.104622674875	0.10061	0.010494643714832393	0.01010	.	.	0.190983042121	0.00243	T	0.003743	0.03151	T	-0.3764	0.03282	T	-0.778449	0.02501	T	.	.	.	0.20198	0.02320	T	0.06574603	0.14082	0.062965795	0.12403	0.06574603	0.14081	0.062965795	0.12402	0.373	0.00241	T	.	.	0.080	0.07554	B	.	.	-0.824170	0.01060	0.046	0.86730318380122695	0.16734	0.00047	0.00373	N	AEFBI	0.010283	0.00071	N	.	.	.	.	.	.	8.40779378229408E-4	0.07887	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.69	-1.6	0.07977	-3.914000	0.00378	.	.	-1.177000	0.01391	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3963:0.4665:0.0:0.1372	4.161	0.09748	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	.	.	.	.	.	.	.	.	0.05	167.43	607	chr6	31029888	.	A	C	167.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.565;DP=5364;ExcessHet=0;FS=0.732;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.94;MQRankSum=-6.073;QD=0.23;ReadPosRankSum=-12.67;SOR=0.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:617,118:735:99:0|1:31029812_T_G:179,0,25534:31029812	9	0	1	0
chr6	31170440	31170440	G	A	exonic	POU5F1	.	nonsynonymous SNV	POU5F1:NM_002701:exon1:c.C181T:p.P61S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.014716581848	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402701609	5.484e-06	6.156e-06	5.456e-06	5.512e-06	1.163e-05	2.36e-06	1.71e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.299e-06	0	1.163e-05	6.573e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.136	0.26085	T	0.346	0.17696	T	0.0	0.02946	B	0.001	0.04355	B	0.010655	0.29839	N	0.160475	1	0.08975	N	0.505	0.13445	N	-0.03	0.63077	T	-1.56	0.37759	N	0.17	0.18103	-1.0347	0.18951	T	0.041	0.17488	T	10	0.060598433	0.07468	T	0.014717	0.35020	T	0.041	0.10877	0.307	0.27806	0.168254554758	0.16434	0.217056483798254	0.21621	0.512130868119	0.49265	0.421325981617	0.28019	T	0.100195	0.40574	T	-0.217498	0.18337	T	-0.550197	0.17307	T	0.101033066115728	0.12470	T	.	.	.	0.029372973	0.02421	0.04068026	0.04453	0.029372973	0.02421	0.04068026	0.04452	-4.415	0.29759	T	.	.	0.064	0.30582	B	.;.	.;.	1.983145	0.25196	16.67	0.94046413002430163	0.24171	0.04415	0.10005	N	AEFBCI	0.049807	0.08643	N	-1.02016861962369	0.08186	0.3829307	-1.04182139087948	0.08878	0.4387275	0.999370999456336	0.39355	0.733237	0.96898	0	0.550933	0.16991	0	0.600757	0.32118	0	0.567892	0.33627	0	.	.	4.19	-0.123	0.12867	0.311000	0.19129	.	.	0.660000	0.55035	0.037000	0.20830	0.870000	0.27582	0.383000	0.26402	0.219:0.3702:0.4108:0.0	4.325	0.10476	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	.	.	.	.	.	.	.	.	0.05	311.43	40	chr6	31170440	.	G	A	311.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=325;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.4;MQRankSum=0.783;QD=8.9;ReadPosRankSum=-1.582;SOR=0.922	GT:AD:DP:GQ:PL	0/1:23,12:35:99:323,0,672	9	0	1	0
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	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	0.260000	0.227273	0.254076	0.257426	0.150000	0.267241	0.246951	0.265152	0.35	2550.97	236	chr6	31355425	.	T	C	2550.97	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.577;DP=1787;ExcessHet=7.0302;FS=23.246;InbreedingCoeff=-0.5388;MLEAC=7;MLEAF=0.35;MQ=57.89;MQRankSum=-12.93;QD=1.95;ReadPosRankSum=-0.449;SOR=1.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:172,37:209:99:.:.:525,0,5197:.	3	0	7	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4914.79	.	chr6	31356431	.	G	*	4914.79	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-1.359;DP=327;ExcessHet=0;FS=2.298;MLEAC=5;MLEAF=0.313;MQ=56.07;MQRankSum=4.58;QD=20.14;ReadPosRankSum=-0.521;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,80:80:99:1|1:31356424_C_G:3600,241,0:31356424	6	2	0	2
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	1867.08	18	chr6	31356716	.	CA	*	1867.08	.	AC=11;AF=0.55;AN=20;DP=445;ExcessHet=1.4371;FS=12.356;InbreedingCoeff=-0.0989;MLEAC=11;MLEAF=0.55;MQ=52.65;QD=4.56;SOR=1.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,26:71:99:0|1:31356711_C_CGGAG:900,0,1811:31356711	2	3	5	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	1822.08	18	chr6	31356719	.	GT	*	1822.08	.	AC=11;AF=0.55;AN=20;DP=448;ExcessHet=1.4371;FS=12.366;InbreedingCoeff=-0.0989;MLEAC=11;MLEAF=0.55;MQ=52.46;QD=4.42;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,26:71:99:0|1:31356711_C_CGGAG:900,0,1811:31356711	2	3	5	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	4775.72	32	chr6	31356748	.	CCT	*	4775.72	.	AC=12;AF=0.6;AN=20;BaseQRankSum=4.05;DP=659;ExcessHet=0;FS=8.576;InbreedingCoeff=-0.0526;MLEAC=12;MLEAF=0.6;MQ=54.11;MQRankSum=-8.251;QD=7.29;ReadPosRankSum=-1.343;SOR=1.842	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,90:90:99:1|1:31356739_C_A:4030,271,0:31356739	3	5	2	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	7688.91	119	chr6	31356827	.	T	*	7688.91	.	AC=14;AF=0.7;AN=20;DP=1309;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=14;MLEAF=0.7;MQ=53.95;QD=6.02;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,77:141:99:0|1:31356827_T_C:5897,2649,2430:31356827	1	5	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	13877.4	79	chr6	31412384	.	G	*	13877.4	.	AC=6;AF=0.3;AN=20;DP=615;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=6;MLEAF=0.3;MQ=60;QD=27.7;SOR=1.633	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,30:59:99:1|0:31412383_TG_T:2475,1236,1123:31412383	5	1	4	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4335.04	114	chr6	31625601	.	T	C	4335.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.295;DP=1214;ExcessHet=22.563;FS=219.133;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.8;ReadPosRankSum=1.54;SOR=11.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,24:145:99:0|1:31625601_T_C:350,0,4585:31625601	0	0	10	0
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	5289.04	114	chr6	31625602	.	G	A	5289.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.245;DP=1213;ExcessHet=22.563;FS=261.515;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.64;ReadPosRankSum=1.66;SOR=10.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,24:145:99:0|1:31625601_T_C:350,0,4585:31625601	0	0	10	0
chr6	31679209	31679209	G	A	exonic	LY6G5C	.	nonsynonymous SNV	LY6G5C:NM_025262:exon2:c.C181T:p.R61C	.	437	1018	66	1	0	68	0.0323194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	.	0.0036	0.0227636	0.0169	0.0046	0.0068	0.0109	0	0.0020	0.0217	0.0987	0.0145664	2252	154602	rs145921744	0.0081	0.0081	0.0054	0.0107	0.0926	0.0079	0.0079	0.0909	0.0902	0.0063	0.0044	3.826e-05	0.0079	7.643e-05	0.0097	0.0019	0.0157	0.0926	0.0065	0.0065	0.0053	0.0076	0.0885	0.0061	0.0060	0.0816	0.0789	0.0051	0	0.0047	0	0.0168	0.0002	0.0034	0.0022	0.0147	0.0885	0.01	0.56456	D	0.02	0.58613	D	0.894	0.49185	P	0.312	0.41466	B	0.727062	0.09886	N	0.818192	0.516679	0.31863	D	1.445	0.36358	L	-2.24	0.87194	D	-2.76	0.58569	D	0.084	0.06059	-0.8846	0.49390	T	0.234	0.60063	T	10	0.0023189783	0.00034	T	.	.	.	0.360	0.68052	.	.	.	.	0.5892804808007955	0.58858	1.21905781881	0.81036	0.264205992222	0.05402	T	0.10245	0.41018	T	-0.347274	0.04900	T	-0.195046	0.55114	T	0.0382722174144337	0.03381	T	0.676832	0.28555	T	0.06356132	0.13397	0.04214743	0.04952	0.06356132	0.13397	0.04214743	0.04952	-9.13	0.68530	D	.	.	0.113	0.22428	B	.	.	3.510531	0.49159	22.7	0.99587674766532908	0.73395	0.44099	0.27244	N	AEFBI	0.135247	0.25552	N	-0.330590158614823	0.27992	1.540278	-0.33022311357452	0.27128	1.503155	0.981238292143273	0.30236	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	3.46	0.459	0.15890	0.600000	0.23803	.	.	-0.105000	0.15698	0.999000	0.42656	0.955000	0.29136	0.971000	0.54645	0.1148:0.0:0.4773:0.4079	4.467	0.11114	895	0.25842	.	.	.	.	.	rs145921744	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	0.019063	0.005051	0.002717	0.005319	0.050000	0.017544	0.015244	0.060606	0.05	1410.43	34	chr6	31679209	.	G	A	1410.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.474;DP=477;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=-0.693;SOR=0.73	GT:AD:DP:GQ:PL	0/1:84,61:145:99:1422,0,2029	9	0	1	0
chr6	31724983	31724983	C	T	exonic	MPIG6B	.	nonsynonymous SNV	MPIG6B:NM_138275:exon4:c.C503T:p.A168V,MPIG6B:NM_138273:exon5:c.C563T:p.A188V,MPIG6B:NM_138272:exon6:c.C635T:p.A212V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.0342489084199	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438470481	2.053e-06	2.736e-06	1.362e-06	2.752e-06	2.989e-05	5.5e-07	1.5e-07	.	.	2.989e-05	0	0	0	0	0	8.998e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.041204	0.23974	N	0.296498	1	0.81001	D	2.295	0.65404	M	0.65	0.52642	T	-3.43	0.67359	D	0.494	0.59563	-0.9455	0.41731	T	0.139	0.45753	T	10	0.628935	0.68404	D	0.034249	0.55546	D	0.291	0.61040	0.441	0.49648	0.450539155747	0.44678	0.6844257973008938	0.68381	0.837266811194	0.67863	.	.	.	0.073949	0.34821	T	0.0926663	0.63489	D	-0.00403768	0.70073	D	0.984468877315521	0.75764	D	0.761424	0.38629	T	0.11114705	0.26268	0.28141028	0.54123	0.11114705	0.26268	0.28141028	0.54122	-8.672	0.65563	D	.	.	0.310	0.56664	B	.;.;.;.	.;.;.;.	4.540907	0.71374	25.7	0.9983754236953315	0.91886	0.49799	0.28516	N	AEFDBCI	0.182204	0.30953	N	0.200316847906875	0.51213	3.304539	0.0929648371653892	0.44195	2.705892	0.999999999532344	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.514364	0.09456	0	0.508809	0.08732	0	.	.	4.76	4.76	0.60189	1.367000	0.33809	.	.	0.596000	0.33519	0.825000	0.30060	1.000000	0.68203	0.180000	0.21296	0.0:1.0:0.0:0.0	13.134	0.58817	889	0.27310	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	975.43	47	chr6	31724983	.	C	T	975.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.12;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=1.6;SOR=0.716	GT:AD:DP:GQ:PL	0/1:59,43:102:99:987,0,1302	9	0	1	0
chr6	31765767	31765767	G	A	exonic	VWA7	.	nonsynonymous SNV	VWA7:NM_025258:exon17:c.C2503T:p.R835W	.	428	1041	52	1	0	54	0.0252809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0015	0.0209665	0.0146	0.0027	0.0019	0.0123	0	0.0010	0.0268	0.1120	0.0121344	1876	154602	rs28399997	0.0068	0.0069	0.0044	0.0092	0.0853	0.0067	0.0066	0.0836	0.0830	0.0019	0.0018	0	0.0075	7.829e-05	0.0075	0.0012	0.0156	0.0853	0.0046	0.0046	0.0039	0.0054	0.0820	0.0043	0.0042	0.0753	0.0727	0.0020	0	0.0025	0	0.0151	9.414e-05	0	0.0012	0.0128	0.0820	0.023	0.48186	D	0.021	0.58089	D	0.688	0.41582	P	0.036	0.22909	B	0.372373	0.04370	N	1.482110	1	0.08975	N	0	0.06538	N	2.66	0.12575	T	-0.7	0.19933	N	0.058	0.02964	-0.9414	0.42394	T	0.007	0.02518	T	10	0.0016879141	0.00021	T	.	.	.	0.108	0.30607	.	.	.	.	0.32778010401152163	0.32691	0.679698092416	0.59945	0.351189315319	0.18097	T	0.001842	0.01261	T	-0.654375	0.00068	T	-0.641561	0.09556	T	0.0175965136085105	0.00492	T	.	.	.	0.13188592	0.30727	0.0849881	0.19592	0.13188592	0.30727	0.0849881	0.19592	-5.029	0.37153	T	.	.	0.070	0.03443	B	.	.	3.391797	0.46967	22.4	0.98701022032391184	0.44910	0.33231	0.24778	N	AEFDBCI	0.294634	0.40496	N	-0.705706012100094	0.15861	0.8031031	-0.717490922813437	0.16525	0.8746093	0.999998793596396	0.74766	0.65757	0.49021	0	0.550933	0.16991	0	0.619478	0.44681	0	0.613276	0.41899	0	.	.	4.87	1.82	0.24209	0.359000	0.19970	.	.	0.672000	0.70159	0.982000	0.35529	0.971000	0.29754	0.021000	0.11733	0.0:0.0:0.4751:0.5249	10.977	0.46687	895	0.25842	.	.	.	.	.	.	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	0.019629	0.000000	0.005435	0.005319	0.050000	0.025862	0.009202	0.053030	0.05	919.43	37	chr6	31765767	.	G	A	919.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.1;DP=403;ExcessHet=0;FS=0.825;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.66;SOR=0.75	GT:AD:DP:GQ:PL	0/1:54,34:88:99:931,0,1376	9	0	1	0
chr6	31954664	31954675	GTCTCGATCCCG	-	exonic	NELFE	.	nonframeshift deletion	NELFE:NM_002904:exon7:c.622_633del:p.D211_R214del	.	418	1071	33	0	0	33	0.0151724	.	.	.	699529	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0056	0.0133786	0.0086	0.0022	0.0093	0.0091	0.0055	0.0060	0.0138	0.0234	0.00146	38	26028	rs377559803	0.0085	0.0084	0.0080	0.0089	0.0230	0.0083	0.0083	0.0222	0.0218	0.0011	0.0098	0.0012	0.0072	0.0056	0.0063	0.0075	0.0157	0.0230	0.0065	0.0065	0.0068	0.0062	0.0211	0.0062	0.0061	0.0177	0.0165	0.0020	0.0509	0.0094	0.0003	0.0141	0.0038	0.0106	0.0070	0.0136	0.0211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2486.39	41	chr6	31954663	.	TGTCTCGATCCCG	T	2486.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.108;DP=517;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.27;ReadPosRankSum=-0.308;SOR=0.716	GT:AD:DP:GQ:PL	0/1:63,66:129:99:2498,0,2388	9	0	1	0
chr6	32053514	32053514	G	A	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon25:c.C8665T:p.R2889W,TNXB:NM_019105:exon25:c.C8659T:p.R2887W	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	0	1501	21	0	0	21	0.00694674	.	.	.	1817330	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.296	0.0344986685189	.	.	0.0002	0	8.694e-05	0	0	0	0.0011	0.0010	0.0001294	20	154602	rs774438735	8.828e-05	8.893e-05	3.541e-05	0.0001	0.0013	7.558e-05	7.104e-05	0.0011	0.0010	0	4.472e-05	0	0	1.883e-05	0.0009	3.598e-06	6.628e-05	0.0013	4.596e-05	4.593e-05	6.423e-05	2.686e-05	0.0002	2.108e-05	1.526e-05	5.277e-05	2.833e-05	0	0	0.0002	0	0	0	0	4.411e-05	0	0.0002	0.018	0.50676	D	0.038	0.51421	D	.	.	.	.	.	.	.	.	.	.	0.998294	0.22242	N	.	.	.	0.34	0.58176	T	-3.68	0.70314	D	0.422	0.46180	-0.6972	0.60572	T	0.238	0.60559	T	9	0.10442045	0.19250	T	0.034499	0.55716	D	0.296	0.61616	.	.	0.243187853663	0.23924	.	.	.	.	0.518100261688	0.41358	T	0.235725	0.60304	T	-0.344161	0.05105	T	-0.31758	0.42841	T	0.416820734739304	0.29573	T	0.812119	0.48487	T	0.13293722	0.30938	0.08941707	0.20908	0.13293722	0.30938	0.08941707	0.20908	-10.238	0.75324	D	0.1261989376234965	0.12697	0.169	0.37140	B	.;.;.;.	.;.;.;.	2.065991	0.26268	17.06	0.98110129056344519	0.38343	0.21350	0.21370	N	AEFBI	0.328943	0.42945	N	-0.641415142798381	0.17710	0.9136646	-0.893753534888981	0.12242	0.6285343	0.00457487843446145	0.10623	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.38	0.134	0.14070	-0.293000	0.08357	.	.	-1.019000	0.01739	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.0:0.4732:0.5268	13.697	0.62066	917	0.20147	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	0.002723	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	1950.43	35	chr6	32053514	.	G	A	1950.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.23;DP=499;ExcessHet=0;FS=2.627;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.68;MQRankSum=0.433;QD=11.15;ReadPosRankSum=1.7;SOR=0.616	GT:AD:DP:GQ:PL	0/1:95,80:175:99:1962,0,2245	9	0	1	0
chr6	32129540	32129540	-	AGACTTATGAGA	exonic	FKBPL	.	nonframeshift insertion	FKBPL:NM_022110:exon2:c.240_241insTCTCATAAGTCT:p.S80_H81insSHKS	.	0	1442	78	2	0	82	0.0276467	.	.	.	3207320	FKBPL-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.0115815	0.0066	0.0013	0.0279	0.0095	0	0.0010	0.0099	0.0190	0.0011526	30	26028	rs373328430	0.0030	0.0030	0.0026	0.0035	0.0236	0.0030	0.0029	0.0224	0.0219	0.0007	0.0236	0.0011	0.0068	0.0001	0.0069	0.0007	0.0093	0.0195	0.0033	0.0033	0.0033	0.0032	0.0197	0.0030	0.0029	0.0165	0.0153	0.0013	0	0.0127	0.0014	0.0118	9.42e-05	0.0068	0.0009	0.0104	0.0197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2533.39	34	chr6	32129540	.	G	GAGACTTATGAGA	2533.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.613;DP=453;ExcessHet=0;FS=5.518;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.6;ReadPosRankSum=-1.319;SOR=0.84	GT:AD:DP:GQ:PL	0/1:57,66:123:99:2545,0,2197	9	0	1	0
chr6	32181363	32181363	C	T	exonic	AGER	.	nonsynonymous SNV	AGER:NM_001136:exon10:c.G1106A:p.R369Q,AGER:NM_001206929:exon10:c.G1154A:p.R385Q,AGER:NM_001206932:exon10:c.G1064A:p.R355Q	.	415	1020	79	8	0	95	0.0444965	.	.	.	699532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.039	.	0.0024	0.00958466	0.0074	0.0015	0.0288	0.0080	0	0.0020	0.0067	0.0201	0.0068628	1061	154602	rs3176931	0.0035	0.0035	0.0029	0.0040	0.0236	0.0034	0.0034	0.0224	0.0219	0.0007	0.0236	7.677e-05	0.0061	0.0002	0.0167	0.0012	0.0085	0.0204	0.0034	0.0034	0.0036	0.0032	0.0184	0.0032	0.0031	0.0153	0.0142	0.0012	0	0.0113	0	0.0110	9.407e-05	0.0102	0.0019	0.0080	0.0184	0.532	0.91255	T	0.704	0.09052	T	0.007	0.14184	B	0.003	0.08700	B	0.375220	0.04386	N	1.379500	1	0.08975	N	.	.	.	1.19	0.37910	T	-0.47	0.52128	N	0.096	0.07811	-1.0536	0.13413	T	0.017	0.06902	T	10	0.002130419	0.00031	T	.	.	.	0.039	0.10176	.	.	0.0716867268079	0.06686	0.17818856528763435	0.17737	0.176059839668	0.19819	0.226081043482	0.01691	T	0.005723	0.24916	T	-0.636222	0.00088	T	-0.668412	0.07711	T	0.00302830581673903	0.00032	T	0.408059	0.10511	T	0.016678704	0.00214	0.035600707	0.02844	0.016678704	0.00214	0.035600707	0.02843	-4.933	0.37548	T	.	.	0.069	0.06024	B	.;.;.;.;.	.;.;.;.;.	-0.020336	0.04144	0.990	0.811079802221224	0.13523	0.01926	0.05878	N	AEFBCI	0.022353	0.01107	N	-2.21518179078559	0.00071	0.003031937	-2.27190542192637	0.00077	0.003372642	0.999999999933849	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.29	-8.51	0.00804	-2.400000	0.01127	.	.	-1.756000	0.00682	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.0:0.6835:0.1041:0.2124	14.712	0.68856	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	0.013072	0.005051	0.002717	0.047872	0.000000	0.000000	0.003049	0.045455	0.15	5477.45	33	chr6	32181363	.	C	T	5477.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.03;DP=704;ExcessHet=0.7463;FS=0.521;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.542;SOR=0.625	GT:AD:DP:GQ:PL	0/1:76,67:143:99:1797,0,1892	7	0	3	0
chr6	32521977	32521978	TG	0	exonic	HLA-DRB5	.	.	.	.	68	790	259	133	272	797	0.249406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	17791.4	272	chr6	32521977	.	TG	*	17791.4	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.34;DP=1990;ExcessHet=0.3701;FS=16.441;InbreedingCoeff=0.1667;MLEAC=2;MLEAF=0.1;MQ=51.31;MQRankSum=-2.903;QD=14.88;ReadPosRankSum=-0.428;SOR=1.168	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,31:243:99:0|1:32521972_G_C:653,0,8751:32521972	8	0	2	0
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	14871.3	264	chr6	32521981	.	T	*	14871.3	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.364;DP=1956;ExcessHet=5.1594;FS=8.865;InbreedingCoeff=-0.4141;MLEAC=4;MLEAF=0.2;MQ=52.74;MQRankSum=-4.675;QD=7.98;ReadPosRankSum=-3.763;SOR=1.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,56:238:99:0|1:32521972_G_C:1877,0,6169:32521972	6	0	4	0
chr6	32530183	32530185	CTT	0	exonic	HLA-DRB5	.	.	.	.	1	58	89	55	23	222	0.631746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	5589.66	111	chr6	32530183	.	CTT	*	5589.66	.	AC=2;AF=0.1;AN=20;BaseQRankSum=5.01;DP=932;ExcessHet=0.0059;FS=6.058;InbreedingCoeff=0.5776;MLEAC=2;MLEAF=0.1;MQ=51.24;MQRankSum=-5.677;QD=11.77;ReadPosRankSum=-1.394;SOR=1.138	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,72:175:99:0|1:32530166_A_G:2713,0,4056:32530166	8	0	2	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28429.7	110	chr6	32530184	.	T	*	28429.7	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.814;DP=1127;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=10;MLEAF=0.5;MQ=56.79;MQRankSum=-1.487;QD=26.57;ReadPosRankSum=-1.486;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,72:172:99:.:.:7202,4186,4056:.	4	4	2	0
chr6	32584175	32584176	CC	-	exonic	HLA-DRB1	.	frameshift deletion	HLA-DRB1:NM_002124:exon2:c.303_304del:p.A102Rfs*25	.	207	1300	14	1	0	16	0.00611621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0008	0	5.464e-05	0	0.0002	0.0010758	28	26028	rs67187877	0.0015	0.0041	0.0014	0.0017	0.0069	0.0015	0.0014	0.0061	0.0058	0.0031	0.0013	0.0045	0.0069	0.0014	0.0011	0.0010	0.0026	0.0033	0.0019	0.0081	0.0019	0.0019	0.0047	0.0017	0.0016	0.0028	0.0023	0.0032	0	0.0024	0.0041	0.0047	0.0008	0.0074	0.0011	0.0018	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	418.39	183	chr6	32584174	.	GCC	G	418.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.05;DP=1617;ExcessHet=0;FS=7.867;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=51.84;MQRankSum=-2.287;QD=2.25;ReadPosRankSum=-5.141;SOR=1.553	GT:AD:DP:GQ:PL	0/1:164,22:186:99:430,0,6820	9	0	1	0
chr6	32584176	32584178	CCG	0	exonic	HLA-DRB1	.	.	.	.	22	858	448	187	7	829	0.323877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	7112.63	183	chr6	32584176	.	CCG	*	7112.63	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.127;DP=1737;ExcessHet=2.8389;FS=10.137;InbreedingCoeff=-0.3793;MLEAC=1;MLEAF=0.056;MQ=50.65;MQRankSum=2.57;QD=8.2;ReadPosRankSum=3.93;SOR=0.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:164,22:186:99:.:.:430,0,6820:.	8	0	1	1
chr6	32949349	32949349	C	T	exonic	HLA-DMA	.	nonsynonymous SNV	HLA-DMA:NM_006120:exon4:c.G703A:p.V235M	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00707549986515	0.0017	0.00219649	0.0006	0.0046	0.0002	0.0001	0	0.0001	0.0011	0.0006	0.0006598	102	154602	rs9469319	0.0003	0.0003	0.0003	0.0003	0.0053	0.0003	0.0003	0.0047	0.0045	0.0053	0.0006	3.826e-05	0.0004	0	0.0024	0.0001	0.0011	0.0005	0.0015	0.0015	0.0015	0.0015	0.0047	0.0013	0.0013	0.0041	0.0039	0.0047	0	0.0009	0	0.0004	0	0	0.0002	0.0014	0.0002	0.002	0.72154	D	0.014	0.62352	D	.	.	.	.	.	.	0.918117	0.08506	N	0.963671	1	0.08975	N	.	.	.	5.12	0.01834	T	-0.11	0.13418	N	0.168	0.19055	-0.9486	0.41211	T	0.002	0.00769	T	10	0.011315972	0.00248	T	0.007075	0.18731	T	0.114	0.32008	.	.	0.0934897674506	0.08844	0.16096493968989228	0.16017	0.455336869801	0.45209	0.400196969509	0.25096	T	0.010105	0.13724	T	-0.523085	0.00422	T	-0.522647	0.20027	T	0.0397049656127593	0.03637	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.32898	B	.;.;.;.	.;.;.;.	-0.317816	0.02540	0.305	0.98377175116935311	0.40812	0.01773	0.05562	N	AEFDBHCI	0.095444	0.19284	N	-0.524095506574461	0.21304	1.129548	-0.724859779504405	0.16343	0.8640911	0.999999606060052	0.74766	0.706298	0.61202	0	0.685571	0.66316	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.0	-2.84	0.05408	-1.927000	0.01652	.	.	-0.885000	0.02425	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.127:0.2689:0.2786:0.3255	1.242	0.01846	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	0.005447	0.000000	0.012228	0.005319	0.000000	0.008621	0.000000	0.000000	0.05	1727.43	35	chr6	32949349	.	C	T	1727.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.496;DP=473;ExcessHet=0;FS=0.577;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-0.857;SOR=0.747	GT:AD:DP:GQ:PL	0/1:82,78:160:99:1739,0,1775	9	0	1	0
chr6	34528877	34528880	GGTG	-	exonic	PACSIN1	.	frameshift deletion	PACSIN1:NM_001199583:exon4:c.456delG:p.E152Dfs*20,PACSIN1:NM_020804:exon4:c.456delG:p.E152Dfs*20	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	100.39	34	chr6	34528876	.	AGGTG	A	100.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=448;ExcessHet=0;FS=19.211;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=-0.718;SOR=4.255	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,11:70:99:0|1:34528876_AGGTG_A:112,0,2063:34528876	9	0	1	0
chr6	34528878	34528878	G	0	splicing	PACSIN1	NM_020804:exon4:c.456+1G>0;NM_001199583:exon4:c.456+1G>0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	139.65	56	chr6	34528878	.	G	*	139.65	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.21;DP=617;ExcessHet=2.8389;FS=196.238;InbreedingCoeff=-0.5972;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=2.19;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,11:70:99:0|1:34528876_AGGTG_A:112,0,2063:34528876	4	0	1	5
chr6	36209898	36209898	C	G	exonic	BRPF3	.	nonsynonymous SNV	BRPF3:NM_015695:exon5:c.C1849G:p.P617A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.0371194661712	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1218571792	6.841e-07	6.84e-07	1.361e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	6.57e-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	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.445	0.92174	M	1.71	0.26737	T	-7.57	0.95276	D	0.863	0.90704	-0.4554	0.70221	T	0.233	0.59904	T	10	0.8565668	0.84856	D	0.037119	0.57417	D	0.534	0.80426	0.644	0.78117	0.649361835314	0.64645	0.7708783273194767	0.77036	1.42624112889	0.85721	0.746485829353	0.73928	T	0.242	0.61016	T	0.201696	0.74050	D	0.0519454	0.73712	D	0.993825554847717	0.84790	D	0.964804	0.86967	D	0.7754071	0.82373	0.84865665	0.91414	0.7754071	0.82375	0.84865665	0.91415	-11.054	0.80209	D	.	.	0.692	0.72869	P	.;.;.;.	.;.;.;.	4.722202	0.75965	26.4	0.97295770544107929	0.33252	0.98476	0.83180	D	AEFDBHCI	0.871650	0.79315	D	1.04552251330307	0.96983	15.41788	0.986003501928263	0.98338	18.00875	0.999999999999963	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	7.858000	0.85341	7.698000	0.66136	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	20.325	0.98698	494	0.76445	Bromodomain|Bromodomain, conserved site|Bromodomain|Bromodomain;.;.;Bromodomain|Bromodomain, conserved site|Bromodomain|Bromodomain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	805.43	34	chr6	36209898	.	C	G	805.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.321;DP=374;ExcessHet=0;FS=3.408;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.244;SOR=0.387	GT:AD:DP:GQ:PL	0/1:30,35:65:99:817,0,776	9	0	1	0
chr6	41771841	41771841	T	C	exonic	FRS3	.	nonsynonymous SNV	FRS3:NM_006653:exon6:c.A539G:p.H180R	.	425	1087	10	0	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.00777474339951	.	0.000998403	0.0025	0	0.0024	0	0	0	0	0.0062	0.0004722	73	154602	rs143921336	0.0004	0.0004	0.0002	0.0006	0.0060	0.0004	0.0004	0.0055	0.0054	3.149e-05	0	0	0	0	0.0014	5.557e-05	0.0005	0.0060	0.0002	0.0002	0.0002	0.0003	0.0056	0.0002	0.0002	0.0040	0.0034	2.413e-05	0	0	0	0	0	0	0.0001	0.0005	0.0056	0.021	0.49117	D	0.016	0.60972	D	0.003	0.11197	B	0.002	0.06944	B	0.000000	0.84330	D	0.049231	0.999999	0.58761	D	2.415	0.69758	M	1.37	0.34253	T	-3.83	0.72120	D	0.43	0.46928	-1.0876	0.05943	T	0.050	0.21456	T	10	0.00805065	0.00183	T	0.007775	0.20616	T	0.108	0.30607	.	.	0.498748557451	0.49510	0.6695201673081536	0.66890	0.284638027848	0.30886	0.627529799938	0.56795	T	0.592132	0.86803	D	-0.399273	0.02341	T	-0.344386	0.39848	T	0.0665794348532288	0.08163	T	0.837116	0.50934	T	0.43596092	0.63141	0.38543975	0.63460	0.43596092	0.63142	0.38543975	0.63460	-2.232	0.04199	T	.	.	0.189	0.48282	B	.;.	.;.	2.975224	0.39672	21.0	0.97331408770743699	0.33428	0.96619	0.70051	D	AEFBI	0.512892	0.54091	D	-0.0771718898360903	0.38396	2.248117	0.0408136358430773	0.41630	2.504301	0.999969090981355	0.48965	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.23	4.07	0.46726	4.861000	0.62666	4.153000	0.42161	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0775:0.0:0.9225	10.435	0.43614	423	0.81269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1134.43	33	chr6	41771841	.	T	C	1134.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.1;DP=412;ExcessHet=0;FS=1.787;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=0.25;SOR=0.906	GT:AD:DP:GQ:PL	0/1:35,49:84:99:1146,0,869	9	0	1	0
chr6	41921747	41921747	C	T	exonic	BYSL	.	nonsynonymous SNV	BYSL:NM_004053:exon1:c.C185T:p.A62V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.0381024578991	.	.	5.292e-05	0	0	0	0	9.651e-05	0	0	4.53e-05	7	154602	rs763354121	7.39e-05	7.456e-05	7.353e-05	7.428e-05	0.0002	6.25e-05	5.809e-05	1.663e-05	1.425e-05	0	2.237e-05	0.0024	0	0	0.0002	2.428e-05	0.0003	0	9.869e-05	9.852e-05	0.0001	9.432e-05	6.55e-05	6.014e-05	4.886e-05	1.973e-05	1.125e-05	0	0	6.55e-05	0.0026	0	0	0	5.884e-05	0.0005	0	0.023	0.48186	D	0.032	0.53426	D	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.825	0.82220	M	2.02	0.21119	T	-3.27	0.65512	D	0.757	0.75559	-1.0091	0.27198	T	0.114	0.40650	T	10	0.43611276	0.57804	T	0.038102	0.58023	D	0.292	0.61157	.	.	0.654621790735	0.65174	0.6819422600906084	0.68133	1.12514127165	0.78428	0.773722350597	0.77982	T	0.498762	0.82006	T	0.039553	0.56986	T	-0.0450499	0.67361	D	0.96232408285141	0.66335	D	0.956004	0.83260	D	0.5563143	0.70306	0.54070914	0.73456	0.5563143	0.70307	0.54070914	0.73456	-9.237	0.69210	D	.	.	0.635	0.70312	P	.	.	5.340268	0.89600	31	0.99919080683101391	0.98586	0.95134	0.63563	D	ALL	0.814622	0.73680	D	0.813756347219598	0.86959	9.055688	0.77779715050407	0.88212	9.497806	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.11	5.11	0.69188	6.639000	0.74170	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.310	0.90135	667	0.61242	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	665.43	33	chr6	41921747	.	C	T	665.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.448;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.691;SOR=0.765	GT:AD:DP:GQ:PL	0/1:28,27:55:99:677,0,697	9	0	1	0
chr6	42678663	42678663	A	T	exonic	UBR2	.	nonsynonymous SNV	UBR2:NM_001363705:exon41:c.A4603T:p.I1535F,UBR2:NM_015255:exon41:c.A4603T:p.I1535F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0041891678197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.035	0.53072	D	0.0	0.02946	B	0.0	0.04355	B	0.279544	0.14971	N	0.676738	1	0.19781	N	-0.55	0.02420	N	0.72	0.50976	T	-1.14	0.29323	N	0.088	0.06587	-0.9557	0.39970	T	0.009	0.03096	T	10	0.032968134	0.01461	T	0.004189	0.10089	T	0.042	0.11227	0.308	0.27967	0.0934897674506	0.08844	0.4069037308018353	0.40606	0.643157423947	0.57862	0.395205527544	0.24400	T	0.160703	0.50466	T	-0.308504	0.07881	T	-0.680921	0.06927	T	0.0928278639912605	0.11550	T	0.728327	0.34315	T	0.0433246	0.06732	0.048896685	0.07357	0.0433246	0.06731	0.048896685	0.07357	-2.221	0.04143	T	.	.	0.071	0.04436	B	.;.	.;.	0.886733	0.12600	9.128	0.75975362157612869	0.11284	0.21728	0.21503	N	AEFBI	0.071557	0.14251	N	-1.75392279358119	0.00668	0.02881813	-1.69898121835062	0.01142	0.05135233	0.999963070984271	0.48965	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.26	-7.78	0.01086	-0.158000	0.10058	1.154000	0.24503	-0.040000	0.17491	0.326000	0.25555	0.998000	0.33993	0.978000	0.57271	0.2089:0.5188:0.1135:0.1588	5.553	0.16386	529	0.73716	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	968.43	37	chr6	42678663	.	A	T	968.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.684;DP=392;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.65;SOR=0.693	GT:AD:DP:GQ:PL	0/1:40,40:80:99:980,0,960	9	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F,SLC29A1:NM_001304466:exon3:c.C121T:p.L41F,SLC29A1:NM_001372327:exon3:c.C46T:p.L16F,SLC29A1:NM_001078175:exon4:c.C46T:p.L16F,SLC29A1:NM_001078177:exon4:c.C46T:p.L16F,SLC29A1:NM_001304462:exon4:c.C283T:p.L95F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4286	847.28	87	chr6	44229406	.	C	T	847.28	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-3.766;DP=1080;ExcessHet=4.5998;FS=191.883;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=0.722;SOR=10.911	GT:AD:DP:GQ:PL	0/1:89,34:123:94:94,0,1487	1	0	6	3
chr6	45422694	45422714	CAGCAGCAGCAGCAACAGCAG	-	exonic	RUNX2	.	nonframeshift deletion	RUNX2:NM_001278478:exon1:c.118_138del:p.Q51_Q57del,RUNX2:NM_001369405:exon1:c.118_138del:p.Q51_Q57del,RUNX2:NM_001015051:exon3:c.160_180del:p.Q65_Q71del,RUNX2:NM_001024630:exon3:c.160_180del:p.Q65_Q71del	Cleidocranial dysplasia, Autosomal dominant;Cleidocranial dysplasia, forme fruste, dental anomalies only, Autosomal dominant;Cleidocranial dysplasia, forme fruste, with brachydactyly, Autosomal dominant;Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, Autosomal dominant	1	1502	4	0	15	19	0.00132979	.	.	.	193463	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0004	0.0013	0.0012	0.0006	0.0018	0.0012	0.0004	0.0003074	8	26028	rs1159091308	0.0014	0.0014	0.0013	0.0014	0.0015	0.0013	0.0013	0.0015	0.0015	0.0006	0.0007	0.0001	0.0009	0.0015	0.0011	0.0015	0.0017	0.0004	0.0016	0.0016	0.0018	0.0013	0.0026	0.0014	0.0013	0.0022	0.0021	0.0010	0	0.0007	0	0.0004	0.0007	0	0.0026	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	777.39	35	chr6	45422693	.	ACAGCAGCAGCAGCAACAGCAG	A	777.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.31;DP=433;ExcessHet=0;FS=0.91;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-1.048;SOR=0.818	GT:AD:DP:GQ:PL	0/1:53,24:77:99:789,0,2014	9	0	1	0
chr6	47286508	47286508	C	T	exonic	TNFRSF21	.	nonsynonymous SNV	TNFRSF21:NM_014452:exon2:c.G184A:p.G62S	.	425	1075	22	0	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.0264386121608	0.0035	0.00159744	0.0029	0.0009	0.0010	0	0.0005	0.0037	0	0.0052	0.002956	457	154602	rs148598211	0.0036	0.0036	0.0036	0.0036	0.0058	0.0035	0.0035	0.0053	0.0052	0.0005	0.0011	0.0030	0	0.0006	0.0047	0.0039	0.0032	0.0058	0.0023	0.0023	0.0024	0.0022	0.0040	0.0021	0.0020	0.0036	0.0034	0.0008	0	0.0009	0.0035	0	0.0002	0	0.0040	0.0028	0.0033	0.12	0.27904	T	0.05	0.48080	T	0.351	0.33667	B	0.015	0.17295	B	0.000055	0.53742	D	0.208186	0.997048	0.43591	D	0.73	0.18813	N	-2.24	0.87194	D	-2.69	0.57435	D	0.185	0.20129	-0.4892	0.69037	T	0.295	0.66697	T	10	0.0069099665	0.00157	T	0.026439	0.49346	D	0.273	0.58883	.	.	0.316918214084	0.31302	0.7300857828032995	0.72953	0.361612119172	0.37821	0.344315797091	0.17082	T	0.741215	0.92834	D	-0.416552	0.01800	T	-0.367399	0.37192	T	0.0298752756531394	0.01970	T	0.79622	0.43953	T	0.24703017	0.47678	0.15723139	0.36775	0.24703017	0.47677	0.15723139	0.36774	-8.036	0.61316	D	.	.	0.120	0.24901	B	.	.	3.934782	0.57533	23.9	0.9965826258480196	0.77757	0.90108	0.51030	D	AEFBI	0.304515	0.41219	N	0.0370104509202122	0.43547	2.645408	0.175499329404744	0.48509	3.065823	0.606191661628031	0.21767	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	4.9	0.63643	3.446000	0.52692	4.921000	0.46042	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.978000	0.57271	0.1482:0.6927:0.0:0.1591	6.439	0.21039	826	0.39940	TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tyrosine-protein kinase ephrin type A/B receptor-like|Tumor necrosis factor receptor 21, 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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1227.43	33	chr6	47286508	.	C	T	1227.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.109;DP=415;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0.593;SOR=0.614	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1239,0,1178	9	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	.	.	.	.	.	.	.	.	0.3	2742.67	63	chr6	80007990	.	G	C	2742.67	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.702;DP=385;ExcessHet=1.5895;FS=272.212;InbreedingCoeff=-0.4966;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=2.21;SOR=9.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,30:62:99:0|1:80007990_G_C:987,0,1072:80007990	2	0	3	5
chr6	80007992	80007996	GTTTT	-	exonic	TTK	.	stopgain	TTK:NM_001166691:exon3:c.323_327del:p.F109*,TTK:NM_003318:exon3:c.323_327del:p.F109*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0020	0.0005	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	0.0004	2.242e-05	0.0001	0.0001	0	0	0.0005	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1939.92	54	chr6	80007991	.	AGTTTT	A	1939.92	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.161;DP=517;ExcessHet=1.5895;FS=207.722;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=2.12;SOR=8.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,19:61:99:0|1:80007990_G_C:358,0,1505:80007990	9	0	1	0
chr6	80007995	80007995	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	993.41	50	chr6	80007995	.	T	*	993.41	.	AC=2;AF=0.25;AN=8;BaseQRankSum=0.18;DP=356;ExcessHet=6.4098;FS=299.871;InbreedingCoeff=-0.2364;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=4.89;ReadPosRankSum=1.76;SOR=9.23	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,19:60:99:1|0:80007990_G_C:759,0,1237:80007990	2	0	2	6
chr6	80007996	80007996	-	CCCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.327_328insCCCCC:p.A110Pfs*7,TTK:NM_003318:exon3:c.327_328insCCCCC:p.A110Pfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	354.9	53	chr6	80007996	.	T	TCCCCC	354.9	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.758;DP=346;ExcessHet=0.4139;FS=110.827;InbreedingCoeff=0.038;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.79;ReadPosRankSum=2.43;SOR=7.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,19:60:99:0|1:80007990_G_C:361,0,1470:80007990	3	0	1	6
chr6	83122011	83122011	C	T	exonic	DOP1A	.	nonsynonymous SNV	DOP1A:NM_001199942:exon11:c.C1154T:p.T385I,DOP1A:NM_015018:exon11:c.C1181T:p.T394I	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00933535475375	0.0051	0.00259585	0.0044	0.0017	0.0028	0	0.0015	0.0069	0.0011	0.0002	0.0044501	688	154602	rs76960445	0.0062	0.0062	0.0064	0.0060	0.0076	0.0061	0.0060	0.0075	0.0074	0.0011	0.0031	7.684e-05	0	0.0026	0.0005	0.0076	0.0044	0.0002	0.0044	0.0045	0.0049	0.0039	0.0077	0.0042	0.0040	0.0072	0.0070	0.0016	0.0022	0.0034	0	0	0.0015	0	0.0077	0.0057	0	0.462	0.08813	T	0.478	0.11968	T	0.001	0.07471	B	0.003	0.08700	B	0.003350	0.35069	N	0.352416	1	0.81001	D	0	0.06538	N	1.97	0.22067	T	0.09	0.05917	N	0.195	0.21449	-1.0194	0.23910	T	0.012	0.04416	T	10	0.0042533875	0.00085	T	0.009335	0.24483	T	0.052	0.14661	.	.	0.043077524339	0.03247	0.1202150027543446	0.11948	0.275081966756	0.29991	0.30859580636	0.11695	T	0.008164	0.07514	T	-0.579238	0.00195	T	-0.599262	0.12874	T	0.00193168797959915	0.00020	T	0.952005	0.81587	D	0.035814017	0.04288	0.038407505	0.03703	0.035814017	0.04288	0.038407505	0.03703	-4.36	0.29010	T	.	.	0.074	0.08997	B	.;.;.	.;.;.	1.300062	0.17018	12.91	0.90906439548014295	0.20155	0.51620	0.28938	D	AEFGBI	0.049465	0.08550	N	-0.604477603999797	0.18809	0.9794968	-0.432464038096793	0.24051	1.314882	0.0526180234328445	0.14912	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.33	4.18	0.48473	2.191000	0.42272	1.578000	0.27457	-0.181000	0.10308	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.2592:0.0:0.7408	7.428	0.26279	714	0.56256	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.05	1176.43	34	chr6	83122011	.	C	T	1176.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.198;DP=419;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=0.6;SOR=0.776	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1188,0,1360	9	0	1	0
chr6	85489573	85489573	G	A	exonic	NT5E	.	nonsynonymous SNV	NT5E:NM_001204813:exon6:c.G1184A:p.R395Q,NT5E:NM_002526:exon6:c.G1184A:p.R395Q	Calcification of joints and arteries, Autosomal recessive	3	1517	2	0	0	2	0.000658762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.168898401197	.	.	2.5e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs753614011	2.19e-05	2.189e-05	9.531e-06	3.439e-05	0.0003	1.585e-05	1.356e-05	0.0002	0.0002	0	2.236e-05	0	2.521e-05	0	0	2.699e-06	3.312e-05	0.0003	6.575e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.038	0.42783	D	0.038	0.51421	D	0.995	0.67487	D	0.876	0.62173	P	0.000000	0.84330	D	0.000000	1	0.81001	D	4.77	0.99599	H	-0.06	0.63568	T	-3.28	0.65972	D	0.94	0.94668	0.453	0.89883	D	0.540	0.83051	D	10	0.987826	0.99168	D	0.168898	0.84687	D	0.582	0.83193	0.957	0.99536	0.994160762649	0.99409	0.9801491089052791	0.98005	0.730975869236	0.62730	0.529981374741	0.43032	T	0.842575	0.96342	D	0.0203948	0.54436	T	0.083668	0.75823	D	0.912491381168365	0.56842	D	0.983802	0.94506	D	0.8873786	0.90284	0.70295596	0.82493	0.8873786	0.90285	0.70295596	0.82494	-6.173	0.67903	T	0.6844683068170683	0.76130	0.746	0.80596	P	.;.	.;.	5.308550	0.89121	29.9	0.99952800770052652	0.99957	0.97367	0.74301	D	AEFBCI	0.928626	0.91312	D	0.953185757039083	0.94111	12.50997	0.838724219811146	0.92342	11.37056	0.999999839386973	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.66	4.79	0.60909	8.919000	0.92353	11.878000	0.98757	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.849000	0.40138	0.0704:0.0:0.9296:0.0	14.463	0.67040	586	0.69252	.;5'-Nucleotidase, 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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1672.43	38	chr6	85489573	.	G	A	1672.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.97;DP=842;ExcessHet=0;FS=1.379;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.922;SOR=0.577	GT:AD:DP:GQ:PL	0/1:69,62:131:99:1684,0,1754	9	0	1	0
chr6	93356876	93356876	T	C	exonic	EPHA7	.	nonsynonymous SNV	EPHA7:NM_001288629:exon5:c.A1165G:p.M389V,EPHA7:NM_001376465:exon5:c.A1165G:p.M389V,EPHA7:NM_001376466:exon5:c.A1165G:p.M389V,EPHA7:NM_001376467:exon5:c.A1165G:p.M389V,EPHA7:NM_001376468:exon5:c.A1165G:p.M389V,EPHA7:NM_001376469:exon5:c.A1165G:p.M389V,EPHA7:NM_001376470:exon5:c.A937G:p.M313V,EPHA7:NM_001376471:exon5:c.A937G:p.M313V,EPHA7:NM_004440:exon5:c.A1165G:p.M389V	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.00730539776015	.	.	1.649e-05	0	8.685e-05	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs752702243	5.472e-06	5.472e-06	1.361e-06	9.626e-06	0.0002	2.35e-06	1.7e-06	9.24e-06	4.56e-06	0	4.473e-05	0	0	1.872e-05	0.0002	8.993e-07	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.3	0.20357	T	0.0	0.02946	B	0.0	0.01387	B	0.000033	0.55875	D	0.194863	0.593492	0.32476	D	-1.865	0.00258	N	0.48	0.55945	T	0.87	0.01688	N	0.21	0.23380	-0.8924	0.48722	T	0.012	0.04416	T	10	0.08525619	0.14374	T	0.007305	0.19361	T	0.119	0.33137	0.269	0.21735	0.243187853663	0.23924	0.4623793929358945	0.46155	0.391208237325	0.40319	0.518307805061	0.41387	T	0.024712	0.18622	T	-0.229986	0.16651	T	-0.471282	0.25378	T	0.0411386672697956	0.03898	T	0.674733	0.28305	T	0.08162094	0.18763	0.09747051	0.23201	0.08162094	0.18762	0.09747051	0.23201	-2.274	0.04415	T	.	.	0.055	0.00397	B	.	.	1.763247	0.22429	15.62	0.5695947664777552	0.05665	0.86187	0.45420	D	AEFDI	0.549791	0.56253	D	-0.651261099836443	0.17424	0.8964561	-0.334509211720851	0.26992	1.494723	5.9615669124468E-5	0.04171	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.85	3.24	0.36257	1.530000	0.35613	4.961000	0.46342	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2316:0.0698:0.0:0.6985	5.973	0.18600	946	0.12043	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	.	.	.	.	.	.	.	.	0.05	1993.43	33	chr6	93356876	.	T	C	1993.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.083;DP=479;ExcessHet=0;FS=2.683;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.527;SOR=0.551	GT:AD:DP:GQ:PL	0/1:84,85:169:99:2005,0,2117	9	0	1	0
chr6	116512096	116512096	A	C	exonic	CALHM5	.	nonsynonymous SNV	CALHM5:NM_153711:exon1:c.A400C:p.S134R	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0042	0.00259585	0.0012	0.0131	0.0009	0	0	0	0	6.058e-05	0.0011061	171	154602	rs34972589	0.0004	0.0004	0.0004	0.0003	0.0127	0.0003	0.0003	0.0117	0.0113	0.0127	0.0008	0	0	0	0.0007	8.094e-06	0.0008	2.319e-05	0.0039	0.0039	0.0041	0.0037	0.0138	0.0036	0.0035	0.0129	0.0125	0.0138	0	0.0009	0	0	0	0	0	0.0024	0	0.062	0.36912	T	0.197	0.27855	T	0.027	0.19556	B	0.021	0.19346	B	0.014625	0.28476	N	0.456198	0.999073	0.21650	N	.	.	.	2.25	0.17761	T	-1.71	0.40660	N	0.277	0.31365	-1.0130	0.25975	T	0.015	0.06234	T	10	0.003171146	0.00053	T	.	.	.	0.061	0.17616	0.322	0.30226	0.0138822411134	0.00435	0.48233665150081	0.48153	0.169001279042	0.19054	0.376813769341	0.21804	T	0.015314	0.12869	T	-0.594244	0.00158	T	-0.615336	0.11556	T	0.033541313932026	0.02561	T	0.642236	0.25428	T	0.1617566	0.36207	0.31308305	0.57307	0.1617566	0.36206	0.31308305	0.57306	-4.87	0.35396	T	.	.	0.264	0.49874	B	.	.	2.860830	0.37796	20.6	0.94872741668348037	0.25695	0.42301	0.26847	N	AEFDGBCIJ	0.340054	0.43700	N	-0.449106823245344	0.23770	1.278845	-0.402911151035551	0.24911	1.366868	0.999999410600789	0.74766	0.441713	0.08003	0	0.607795	0.50457	0	0.232529	0.04895	2	0.56214	0.19341	0	.	.	5.34	4.18	0.48473	2.678000	0.46566	8.016000	0.76210	0.756000	0.94297	0.754000	0.29177	1.000000	0.68203	0.019000	0.11356	0.8402:0.0:0.1598:0.0	7.598	0.27228	531	0.73574	.	.	.	.	.	.	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	0.05	1442.43	34	chr6	116512096	.	A	C	1442.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.201;DP=410;ExcessHet=0;FS=5.122;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-1.611;SOR=0.762	GT:AD:DP:GQ:PL	0/1:41,56:97:99:1454,0,1041	9	0	1	0
chr6	116515952	116515952	C	T	exonic	CALHM5	.	nonsynonymous SNV	CALHM5:NM_153711:exon2:c.C893T:p.T298M	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0043	0.00299521	0.0013	0.0135	0.0009	0.0002	0	3.027e-05	0.0011	0.0001	0.0012031	186	154602	rs35398770	0.0004	0.0004	0.0004	0.0004	0.0129	0.0004	0.0004	0.0119	0.0115	0.0129	0.0008	0	0.0001	1.873e-05	0.0007	5.05e-05	0.0009	8.137e-05	0.0039	0.0040	0.0042	0.0037	0.0139	0.0037	0.0036	0.0129	0.0126	0.0139	0	0.0009	0	0.0002	0	0.0034	4.412e-05	0.0024	0.0002	0.309	0.14064	T	0.389	0.15554	T	0.777	0.44168	P	0.07	0.27859	B	0.820749	0.09180	N	0.925063	1	0.81001	D	.	.	.	2.23	0.18083	T	0.52	0.02853	N	0.159	0.16586	-0.9723	0.36712	T	0.012	0.04653	T	10	0.0029054582	0.00047	T	.	.	.	0.059	0.16972	.	.	0.0297737177859	0.01360	0.558403370289924	0.55767	0.117277265596	0.13215	0.448176860809	0.31695	T	0.001568	0.01004	T	-0.644986	0.00078	T	-0.688223	0.06492	T	0.0161963464800794	0.00394	T	0.748625	0.36937	T	0.009681132	0.00003	0.02746822	0.00901	0.009681132	0.00003	0.02746822	0.00901	-4.541	0.31421	T	.	.	0.095	0.14979	B	.	.	2.602022	0.33775	19.44	0.93746294227023785	0.23684	0.90738	0.52168	D	AEFDGBI	0.150446	0.27474	N	-0.0960371825880188	0.37565	2.187392	-0.0434794232461534	0.37775	2.216274	0.999353527073074	0.39259	0.706548	0.73137	0	0.563428	0.19063	0	0.467745	0.07146	0	0.714379	0.83352	0	.	.	6.03	4.2	0.48814	2.347000	0.43692	3.310000	0.37456	0.599000	0.40250	0.973000	0.34540	0.998000	0.33993	0.018000	0.11154	0.0:0.832:0.0:0.168	9.320	0.37119	518	0.74548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1309.43	33	chr6	116515952	.	C	T	1309.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.71;DP=430;ExcessHet=0;FS=0.811;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.206;SOR=0.865	GT:AD:DP:GQ:PL	0/1:44,52:96:99:1321,0,936	9	0	1	0
chr6	116616930	116616930	G	T	exonic	RSPH4A	.	nonsynonymous SNV	RSPH4A:NM_001010892:exon1:c.G307T:p.D103Y,RSPH4A:NM_001161664:exon1:c.G307T:p.D103Y	Ciliary dyskinesia, primary, 11	3	1517	2	0	0	2	0.000658762	.	.	.	686789	Primary_ciliary_dyskinesia|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.122	0.0172361108497	0.0008	0.000599042	0.0002	0.0027	8.64e-05	0	0	0	0	0	0.000207	32	154602	rs139745647	6.43e-05	6.43e-05	7.078e-05	5.775e-05	0.0023	5.361e-05	4.976e-05	0.0019	0.0018	0.0023	8.944e-05	0	0	0	0.0003	8.993e-07	0.0001	0	0.0006	0.0006	0.0008	0.0004	0.0023	0.0005	0.0005	0.0019	0.0018	0.0023	0	0	0	0	0	0	0	0.0009	0	0.003	0.72154	D	0.009	0.70582	D	0.997	0.70673	D	0.875	0.62107	P	0.334923	0.04153	N	1.497030	1	0.08975	N	1.525	0.38595	L	-0.48	0.70249	T	-2.25	0.50992	N	0.292	0.41459	-0.8567	0.51498	T	0.236	0.60270	T	10	0.007859677	0.00178	T	0.017236	0.38857	T	0.122	0.33800	.	.	0.497871611283	0.49422	0.40138530547445717	0.40053	0.432958136732	0.43468	0.369365483522	0.20742	T	0.011831	0.10494	T	-0.318898	0.06988	T	-0.237328	0.51059	T	0.107166061277331	0.13127	T	0.763824	0.40231	T	0.10768593	0.25463	0.195532	0.43235	0.10768593	0.25463	0.195532	0.43234	-6.124	0.47898	T	.	.	0.108	0.34754	B	.;.;.	.;.;.	2.145164	0.27317	17.42	0.8585670367996967	0.16156	0.11593	0.16736	N	AEFDBHCI	0.046830	0.07819	N	-0.34965440587093	0.27285	1.495743	-0.470639215112336	0.22967	1.250127	0.999999926313458	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	5.24	3.39	0.37919	0.899000	0.28049	3.187000	0.36685	0.676000	0.76740	0.548000	0.27330	0.999000	0.35428	0.012000	0.09680	0.2171:0.0:0.7829:0.0	6.782	0.22835	475	0.77788	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1723.43	34	chr6	116616930	.	G	T	1723.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=465;ExcessHet=0;FS=5.112;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.822;SOR=1.101	GT:AD:DP:GQ:PL	0/1:76,66:142:99:1735,0,1861	9	0	1	0
chr6	138473353	138473353	G	A	exonic	NHSL1	.	nonsynonymous SNV	NHSL1:NM_001144060:exon3:c.C292T:p.P98S,NHSL1:NM_020464:exon3:c.C436T:p.P146S	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00383156465049	0.0037	0.00119808	0.0020	0.0009	0	0	0	0.0035	0.0042	0.0013	0.0006921	107	154602	rs201780864	0.0031	0.0030	0.0031	0.0030	0.0093	0.0030	0.0030	0.0073	0.0066	0.0004	0.0025	0.0024	0	0.0007	0.0093	0.0035	0.0041	0.0012	0.0023	0.0023	0.0024	0.0022	0.0034	0.0021	0.0020	0.0030	0.0029	0.0010	0.0099	0.0027	0.0023	0	0.0005	0.0136	0.0034	0.0033	0.0012	0.215	0.21801	T	0.548	0.10785	T	0.001	0.07471	B	0.002	0.08700	B	0.012534	0.29142	N	0.390782	0.979379	0.25186	N	1.4	0.35362	L	1.23	0.36872	T	-2.62	0.63207	D	0.06	0.13055	-1.0072	0.27789	T	0.016	0.06664	T	10	0.0033589303	0.00058	T	0.003832	0.08961	T	0.054	0.15330	.	.	0.0401082797425	0.02173	0.14422849197835866	0.14345	.	.	0.292442917824	0.09278	T	0.011375	0.29960	T	-0.541817	0.00327	T	-0.55411	0.16933	T	0.0191748720763091	0.00624	T	0.662834	0.28519	T	0.028806757	0.02275	0.052949004	0.08825	0.028806757	0.02275	0.052949004	0.08825	-1.247	0.01829	T	.	.	0.072	0.04436	B	.;.;.;.	.;.;.;.	0.726152	0.10952	7.618	0.67345597212008468	0.08327	0.61867	0.31610	D	AEFBI	0.067178	0.13194	N	-0.710262116777375	0.15732	0.7954531	-0.593022865051781	0.19673	1.05663	0.767519204967811	0.23613	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.13	1.12	0.19700	0.810000	0.26841	1.735000	0.28356	-0.718000	0.03832	1.000000	0.71638	0.983000	0.30585	0.033000	0.13494	0.2696:0.1535:0.4184:0.1585	1.042	0.01463	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	0.009174	0.015957	0.006173	0.000000	0.000000	0.045455	0.027778	0.000000	0.05	1781.43	40	chr6	138473353	.	G	A	1781.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.359;DP=471;ExcessHet=0;FS=1.258;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-1.084;SOR=0.804	GT:AD:DP:GQ:PL	0/1:78,74:152:99:1793,0,1913	9	0	1	0
chr6	142075893	142075893	G	A	exonic	NMBR	.	nonsynonymous SNV	NMBR:NM_001324308:exon3:c.C484T:p.R162W,NMBR:NM_001324307:exon4:c.C484T:p.R162W,NMBR:NM_002511:exon4:c.C928T:p.R310W	.	433	1065	24	0	0	24	0.0111421	.	.	.	699344	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.392	0.0443608226075	0.0048	0.00319489	0.0046	0.0016	0.0042	0.0001	0.0023	0.0066	0.0044	0.0024	0.0046118	713	154602	rs142626832	0.0057	0.0057	0.0057	0.0056	0.0083	0.0056	0.0055	0.0064	0.0063	0.0010	0.0048	0.0046	0	0.0029	0.0083	0.0064	0.0060	0.0023	0.0044	0.0044	0.0047	0.0042	0.0079	0.0042	0.0040	0.0068	0.0063	0.0010	0	0.0079	0.0032	0.0004	0.0009	0.0068	0.0068	0.0057	0.0023	0.001	0.78490	D	0.029	0.54541	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.295	0.90403	M	1.18	0.37746	T	-2.34	0.51811	N	0.936	0.94196	-0.7555	0.57646	T	0.156	0.48824	T	10	0.03532988	0.01777	T	0.044361	0.61452	D	0.392	0.70764	.	.	0.804686868852	0.80285	0.8196599033719563	0.81922	0.306287977142	0.32927	0.715474963188	0.69387	T	0.35663	0.72345	T	-0.0837222	0.39107	T	0.110409	0.77600	D	0.0728350477732559	0.09043	T	0.918408	0.70674	D	0.5702802	0.71076	0.59424245	0.76447	0.5702802	0.71077	0.59424245	0.76448	-10.551	0.77139	D	.	.	0.720	0.73784	P	.	.	4.135081	0.61910	24.4	0.99905509036723072	0.97651	0.86661	0.45989	D	AEFDCI	0.803252	0.72845	D	0.380703883405565	0.60376	4.225956	0.270218235454805	0.53809	3.54804	0.0607733084802156	0.15208	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.31	0.912	0.18476	1.996000	0.40396	0.884000	0.22419	0.670000	0.69193	1.000000	0.71638	0.999000	0.35428	0.973000	0.55318	0.0:0.0:0.4259:0.5741	15.314	0.73770	929	0.16858	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	0.010070	0.010101	0.013587	0.014620	0.000000	0.008621	0.006098	0.000000	0.1	3338.14	33	chr6	142075893	.	G	A	3338.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.68;DP=555;ExcessHet=0.2348;FS=0.469;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=1.66;SOR=0.655	GT:AD:DP:GQ:PL	0/1:62,68:130:99:1829,0,1501	8	0	2	0
chr6	143937672	143937672	G	T	exonic	ZC2HC1B	.	stopgain	ZC2HC1B:NM_001013623:exon7:c.G622T:p.G208X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0004	1.94e-05	3	154602	rs777789592	8.579e-06	8.209e-06	0	1.74e-05	0.0001	4.58e-06	3.61e-06	5.84e-05	4.363e-05	0	0	0	0	0	0	2.781e-06	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999874	0.50225	A	.	.	.	.	.	.	.	.	.	0.175	0.18784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331828	0.85291	D	0.529014	0.95190	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.556282	0.99068	42	0.99418034694991608	0.63645	0.86388	0.45658	D	AEFDBHCIJ	0.082636	0.16735	N	1.04471147122662	0.96963	15.38982	0.889343056539138	0.95091	13.30336	0.999999624690043	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	5.13	5.13	0.69729	2.957000	0.48830	6.972000	0.57094	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	14.265	0.65662	887	0.27948	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1173.43	42	chr6	143937672	.	G	T	1173.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.27;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=2.24;SOR=0.657	GT:AD:DP:GQ:PL	0/1:79,51:130:99:1185,0,2002	9	0	1	0
chr6	149378547	149378547	A	G	exonic	TAB2	.	nonsynonymous SNV	TAB2:NM_001292034:exon3:c.A632G:p.N211S,TAB2:NM_001292035:exon3:c.A536G:p.N179S,TAB2:NM_001369506:exon4:c.A632G:p.N211S,TAB2:NM_015093:exon5:c.A632G:p.N211S	Congenital heart defects, nonsyndromic, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.0174232180529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.097e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.15561	T	0.308	0.19845	T	0.993	0.65571	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	-0.73	0.73100	T	-0.76	0.21215	N	0.832	0.82761	-0.6069	0.64532	T	0.286	0.65763	T	10	0.41120163	0.56237	T	0.017423	0.39111	T	0.289	0.60808	0.142	0.04556	0.838873866338	0.83733	0.5868442608649261	0.58614	0.921335754619	0.71472	0.701119542122	0.67305	T	0.222447	0.58630	T	-0.0361796	0.46514	T	-0.289746	0.45798	T	0.672599494457245	0.39454	D	0.943606	0.78679	D	0.07764685	0.17636	0.09442277	0.22350	0.07764685	0.17635	0.09442277	0.22350	-3.035	0.10563	T	0.6447677205311815	0.71602	0.165	0.36335	B	.;.;.	.;.;.	3.080831	0.41449	21.4	0.94975233418001004	0.25908	0.99224	0.93061	D	AEGBI	.	.	.	0.18399020640354	0.50429	3.23311	0.184305151337975	0.48988	3.107472	0.999995086728048	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	4.81	0.61401	8.718000	0.91150	11.270000	0.91373	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.9329:0.0:0.0671:0.0	12.018	0.52617	761	0.50382	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	369.45	255	chr6	149378547	.	A	G	369.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-5.947;DP=1056;ExcessHet=0.7463;FS=165.392;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.46;ReadPosRankSum=2.26;SOR=10.473	GT:AD:DP:GQ:PL	0/1:218,78:296:99:152,0,4455	7	0	3	0
chr6	149789999	149789999	G	A	exonic	PCMT1	.	nonsynonymous SNV	PCMT1:NM_001252051:exon3:c.G307A:p.A103T,PCMT1:NM_001252049:exon4:c.G412A:p.A138T,PCMT1:NM_001252053:exon4:c.G412A:p.A138T,PCMT1:NM_001360452:exon4:c.G238A:p.A80T,PCMT1:NM_001360456:exon4:c.G238A:p.A80T,PCMT1:NM_005389:exon4:c.G412A:p.A138T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0295737398198	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	6.852e-07	6.84e-07	0	1.377e-06	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.31235	T	0.136	0.34009	T	0.086	0.24919	B	0.023	0.20792	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.245	0.63543	M	1.95	0.22474	T	-1.21	0.30762	N	0.719	0.72120	-1.0656	0.10409	T	0.070	0.28544	T	10	0.4268556	0.57232	T	0.029574	0.52060	D	0.219	0.51417	0.399	0.42753	0.522664700966	0.51911	0.8817495041670186	0.88142	0.872773600911	0.69459	0.811635971069	0.83743	D	0.141042	0.47589	T	0.0985175	0.64132	D	-0.0962629	0.63686	T	0.968655049800873	0.68318	D	0.958704	0.84742	D	0.62158465	0.73848	0.5588725	0.74480	0.62158465	0.73849	0.5588725	0.74480	-9.334	0.69821	D	.	.	0.278	0.61171	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.029180	0.59562	24.1	0.99780147328585533	0.86693	0.99566	0.97511	D	AEFDBI	0.942526	0.94722	D	0.21264749090221	0.51813	3.359596	0.413581407135128	0.62410	4.455927	0.999999998573653	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	9.346000	0.96459	9.756000	0.81491	0.669000	0.69127	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.575	0.99368	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	.	.	.	.	.	.	.	.	0.05	41.43	33	chr6	149789999	.	G	A	41.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.401;DP=428;ExcessHet=0;FS=45.118;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=0.675;SOR=5.418	GT:AD:DP:GQ:PL	0/1:65,14:79:53:53,0,1360	9	0	1	0
chr6	150683817	150683817	C	T	exonic	PLEKHG1	.	nonsynonymous SNV	PLEKHG1:NM_001329798:exon1:c.C55T:p.R19C	.	428	1065	27	2	0	31	0.0143452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00299521	0.0103	0	0.0109	0	.	0.0012	0	0.0142	0.0008538	132	154602	rs140748525	0.0012	0.0010	0.0007	0.0017	0.0120	0.0012	0.0011	0.0114	0.0111	8.21e-05	0.0002	0.0003	0	7.914e-05	0.0112	0.0003	0.0022	0.0120	0.0006	0.0006	0.0005	0.0007	0.0088	0.0005	0.0005	0.0067	0.0059	0.0002	0	0.0003	0	0.0002	0	0.0034	0.0005	0.0009	0.0088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	2954.14	33	chr6	150683817	.	C	T	2954.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.08;DP=522;ExcessHet=0.2348;FS=0.479;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.492;SOR=0.749	GT:AD:DP:GQ:PL	0/1:61,56:117:99:1464,0,1502	8	0	2	0
chr6	152331115	152331115	C	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon77:c.G13357C:p.V4453L,SYNE1:NM_182961:exon78:c.G13570C:p.V4524L	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00754825800838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.034	0.53072	D	0.003	0.11197	B	0.004	0.10090	B	0.325020	0.14208	N	0.660669	1	0.81001	D	0.69	0.16971	N	1.38	0.34050	T	-0.86	0.23372	N	0.117	0.11340	-0.9824	0.34445	T	0.014	0.05513	T	10	0.042183667	0.02943	T	0.007548	0.20033	T	0.031	0.07369	0.323	0.30387	0.170165803431	0.16609	0.20548542717459714	0.20465	0.130822632684	0.14758	0.293257117271	0.09399	T	0.127862	0.45515	T	-0.311759	0.07593	T	-0.685596	0.06647	T	0.025374189688588	0.01322	T	0.79652	0.44001	T	0.047435828	0.08107	0.051205635	0.08193	0.047435828	0.08107	0.051205635	0.08192	-0.288	0.00468	T	.	.	0.131	0.28145	B	.;.	.;.	0.577523	0.09458	6.239	0.69415960505877994	0.08965	0.95287	0.64137	D	AEFDBI	0.517551	0.54362	D	-0.98190325063367	0.08989	0.4236828	-0.848130851139563	0.13332	0.6910612	0.0729640935166664	0.15619	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	6.03	0.886	0.18329	1.409000	0.34288	-0.077000	0.12225	-0.313000	0.06017	1.000000	0.71638	0.000000	0.08366	0.599000	0.31363	0.0:0.5304:0.1169:0.3527	6.318	0.20409	847	0.35998	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2143	326.48	164	chr6	152331115	.	C	G	326.48	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-4.324;DP=1368;ExcessHet=0.7463;FS=279.975;InbreedingCoeff=-0.2893;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=1.19;SOR=11.121	GT:AD:DP:GQ:PL	0/1:94,43:151:55:55,0,1943	4	0	3	3
chr6	152399777	152399777	G	T	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon48:c.C7097A:p.T2366N,SYNE1:NM_182961:exon48:c.C7076A:p.T2359N	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	266020	not_provided|Inborn_genetic_diseases|Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.100	0.00760018042742	0.0002	.	0.0001	0	0.0002	0	0	0.0002	0.0011	0.0002	0.0001229	19	154602	rs142747430	0.0001	0.0001	0.0001	0.0002	0.0088	0.0001	0.0001	0.0069	0.0062	2.987e-05	0.0002	7.652e-05	0	0	0.0088	9.443e-05	0.0001	0.0002	0.0002	0.0002	8.994e-05	0.0003	0.0006	0.0001	0.0001	0.0003	0.0002	0	0	0.0006	0	0	0	0.0068	0.0002	0.0009	0	0.063	0.36709	T	0.006	0.70582	D	0.907	0.50062	P	0.478	0.47030	P	0.020366	0.27054	N	0.315023	0.999282	0.46548	D	2.535	0.73915	M	1.33	0.35031	T	-2.54	0.55025	D	0.671	0.67908	-1.1354	0.01540	T	0.070	0.28675	T	10	0.3051511	0.48034	T	0.008	0.20166	T	0.100	0.28662	.	.	0.545869088564	0.54241	0.4366843502356348	0.43585	0.247225316815	0.27269	0.65043091774	0.60047	T	0.634238	0.88703	D	-0.309711	0.07773	T	-0.385095	0.35126	T	0.129531408373129	0.15338	T	0.892511	0.62902	D	0.20593356	0.42750	0.2313777	0.48267	0.20593356	0.42750	0.2313777	0.48266	-7.61	0.58381	D	.	.	0.212	0.44042	B	.;.;.	.;.;.	3.217692	0.43831	21.8	0.93957290805129356	0.24023	0.98204	0.80511	D	AEFBIJ	0.901980	0.84932	D	0.505849931100383	0.67434	5.081264	0.556523022088004	0.71851	5.718466	0.999999999938205	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.06	5.16	0.70563	7.524000	0.80796	6.410000	0.55593	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.782000	0.36987	0.0:0.0:0.8704:0.1296	16.772	0.85400	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	0.007553	0.000000	0.005435	0.020468	0.000000	0.008621	0.006098	0.000000	0.05	1418.43	42	chr6	152399777	.	G	T	1418.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.46;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=0.543;SOR=0.676	GT:AD:DP:GQ:PL	0/1:68,65:133:99:1430,0,1572	9	0	1	0
chr6	160595441	160595441	G	C	exonic	LPA	.	nonsynonymous SNV	LPA:NM_005577:exon21:c.C3382G:p.L1128V	.	0	1504	16	2	0	20	0.00660502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00993353122689	.	0.00119808	0.0008	0	8.639e-05	0	0	7.494e-05	0	0.0055	0.0006792	105	154602	rs199532848	0.0004	0.0004	0.0002	0.0006	0.0057	0.0004	0.0004	0.0053	0.0051	2.987e-05	4.472e-05	0	0	0	0.0026	6.565e-05	0.0005	0.0057	0.0003	0.0003	0.0002	0.0003	0.0060	0.0002	0.0002	0.0043	0.0037	4.817e-05	0	6.542e-05	0	0	0	0.0034	0.0001	0	0.0060	0.356	0.12070	T	0.171	0.30339	T	.	.	.	.	.	.	.	.	.	.	0.999952	0.19072	N	.	.	.	-0.19	0.65931	T	-0.27	0.11366	N	0.444	0.48227	-0.7394	0.58483	T	0.085	0.33269	T	9	0.006380707	0.00144	T	0.009934	0.25856	T	0.115	0.32236	.	.	0.181679512989	0.17746	0.09999171534566688	0.09930	0.262508907343	0.28810	0.47980889678	0.36030	T	.	.	.	-0.507133	0.00521	T	-0.499042	0.22448	T	0.102417654224001	0.12622	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.49265	B	.;.	.;.	1.799731	0.22873	15.80	0.99492814965958343	0.67573	0.37211	0.25710	N	AEFDGHCI	0.097501	0.19664	N	-0.640166366920478	0.17747	0.9158408	-0.610956012351554	0.19212	1.029751	5.25104750500832E-4	0.07225	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	2.14	1.23	0.20358	0.045000	0.13898	-2.546000	0.03624	0.342000	0.19800	0.207000	0.24389	0.000000	0.08366	0.014000	0.10232	0.2034:0.0:0.7966:0.0	4.725	0.12316	889	0.27310	.;.	.	.	.	.	.	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	0.000000	0.000000	0.05	3016.43	40	chr6	160595441	.	G	C	3016.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.827;DP=559;ExcessHet=0;FS=1.015;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.36;MQRankSum=0.977;QD=12.95;ReadPosRankSum=1.31;SOR=0.608	GT:AD:DP:GQ:PL	0/1:103,130:233:99:3028,0,2755	9	0	1	0
chr6	167976258	167976342	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	0	exonic	HGC6.3	.	.	.	.	452	926	15	0	129	144	0.00803428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	730.04	69	chr6	167976258	.	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	*	730.04	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.41;DP=688;ExcessHet=0.2065;FS=6.271;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.2;MQ=56.81;MQRankSum=-5.977;QD=2.19;ReadPosRankSum=-0.411;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,12:12:37:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:526,37,0:167976249	7	1	2	0
chr6	167976271	167976271	T	0	exonic	HGC6.3	.	.	.	.	531	815	51	0	125	176	0.0303391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	1353.59	68	chr6	167976271	.	T	*	1353.59	.	AC=5;AF=0.313;AN=16;BaseQRankSum=2.93;DP=667;ExcessHet=0.7957;FS=1.88;InbreedingCoeff=-0.0311;MLEAC=6;MLEAF=0.375;MQ=55.16;MQRankSum=-4.962;QD=3.35;ReadPosRankSum=-2.838;SOR=0.764	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,12:12:37:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:526,37,0:167976249	4	1	3	2
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	3211.87	73	chr6	167976273	.	A	*	3211.87	.	AC=5;AF=0.313;AN=16;DP=670;ExcessHet=0.218;FS=2.453;InbreedingCoeff=0.2593;MLEAC=6;MLEAF=0.375;MQ=55.05;QD=7.93;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,12:12:37:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:526,37,0:167976249	4	1	3	2
chr6	169221478	169221478	G	A	exonic	THBS2	.	nonsynonymous SNV	THBS2:NM_001381939:exon19:c.C3149T:p.T1050M,THBS2:NM_001381942:exon20:c.C3092T:p.T1031M,THBS2:NM_003247:exon20:c.C3323T:p.T1108M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.911	0.281180469365	7.7e-05	0.00159744	0.0005	0	0.0003	0	0	1.502e-05	0	0.0034	0.0004657	72	154602	rs139601458	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	5.974e-05	0.0002	0	0.0001	1.878e-05	0.0003	8.993e-06	0.0003	0.0027	0.0001	0.0001	8.995e-05	0.0002	0.0033	8.163e-05	6.72e-05	0.0021	0.0017	0	0	0	0	0	0	0	4.41e-05	0	0.0033	0.004	0.65419	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000745	0.42006	U	0.000000	0.999998	0.58761	D	2.99	0.85699	M	-3.8	0.95696	D	-4.78	0.80510	D	0.921	0.92433	1.051	0.98146	D	0.919	0.97335	D	10	0.022021174	0.00540	T	0.28118	0.90236	D	0.911	0.97624	.	.	0.971282834433	0.97096	0.7179414104728662	0.71737	1.45617441021	0.86253	0.745440065861	0.73773	T	0.75806	0.93423	D	0.201918	0.74071	D	0.514528	0.94938	D	0.244717964715307	0.22635	T	0.862414	0.55771	D	0.31325093	0.54066	0.21522929	0.46104	0.31325093	0.54066	0.21522929	0.46103	-11.013	0.79729	D	.	.	0.229	0.48209	B	.;.;.	.;.;.	5.222944	0.87663	29.3	0.9991791806071646	0.98518	0.96340	0.68660	D	AEFDBHCI	0.913334	0.87518	D	0.843644325339001	0.88743	9.694596	0.790621452120917	0.89132	9.85177	0.999999999999998	0.74766	0.743674	0.98306	0	0.573888	0.26702	0	0.630245	0.45026	0	0.613276	0.41899	0	.	.	4.92	4.92	0.64147	9.306000	0.95285	9.893000	0.82289	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:0.0:1.0:0.0	18.147	0.89592	994	0.00715	Thrombospondin, C-terminal|Thrombospondin, C-terminal;.;Thrombospondin, C-terminal|Thrombospondin, 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1375.43	35	chr6	169221478	.	G	A	1375.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.725;DP=471;ExcessHet=0;FS=0.664;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.769;SOR=0.762	GT:AD:DP:GQ:PL	0/1:64,58:122:99:1387,0,1483	9	0	1	0
chr6	169769592	169769592	A	G	exonic	ERMARD	.	nonsynonymous SNV	ERMARD:NM_001278532:exon11:c.A734G:p.H245R,ERMARD:NM_001278531:exon12:c.A1112G:p.H371R,ERMARD:NM_001278533:exon12:c.A1112G:p.H371R,ERMARD:NM_018341:exon12:c.A1112G:p.H371R	.	430	1050	38	4	0	46	0.0214352	.	.	.	369028	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.047	.	0.0087	0.00738818	0.0120	0.0014	0.0051	0.0001	0.0287	0.0145	0.0170	0.0129	0.011093	1715	154602	rs61738268	0.0094	0.0094	0.0092	0.0096	0.0177	0.0092	0.0092	0.0149	0.0139	0.0009	0.0039	0.0275	0.0001	0.0256	0.0177	0.0085	0.0114	0.0133	0.0082	0.0082	0.0073	0.0090	0.0126	0.0078	0.0076	0.0101	0.0092	0.0017	0.0011	0.0070	0.0305	0	0.0264	0.0170	0.0088	0.0071	0.0126	0.975	0.04277	T	0.542	0.09690	T	0.001	0.07471	B	0.004	0.10090	B	0.305256	0.14528	N	0.650998	1	0.08975	N	-0.525	0.02545	N	1.36	0.35590	T	-0.12	0.21215	N	0.143	0.14338	-0.9836	0.34164	T	0.017	0.07045	T	10	0.0032638013	0.00056	T	.	.	.	0.047	0.12962	.	.	.	.	0.31609896173836505	0.31522	0.0373888473115	0.03961	.	.	.	0.008987	0.08212	T	-0.67989	0.00048	T	-0.73836	0.03960	T	0.000135009205630534	0.00001	T	0.79692	0.44603	T	0.037723392	0.04891	0.053436194	0.09000	0.033569187	0.03603	0.05691626	0.10254	-8.293	0.63532	D	0.08152081124655977	0.04218	0.096	0.21578	B	.;.;.;.;.	.;.;.;.;.	-0.733426	0.01246	0.064	0.18575656299565155	0.00590	0.00549	0.02518	N	AEFBI	0.024146	0.01450	N	-1.42448751391802	0.02425	0.1070656	-1.4358365163864	0.02900	0.1343124	0.478738286159151	0.20768	0.651	0.46895	0	0.633656	0.55848	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.34	-4.53	0.03217	-1.579000	0.02227	-1.391000	0.05549	-0.211000	0.08354	0.000000	0.06391	0.000000	0.08366	0.863000	0.40966	0.816:0.0:0.184:0.0	15.502	0.75442	929	0.16858	.;.;.;.;.	WDR27|WDR27	Cells_Cultured_fibroblasts|Heart_Left_Ventricle	ERMARD	Skin_Not_Sun_Exposed_Suprapubic	.	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	0.018630	0.005051	0.016304	0.014620	0.050000	0.000000	0.036585	0.026515	0.05	513.43	33	chr6	169769592	.	A	G	513.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.529;DP=356;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=-0.659;SOR=0.688	GT:AD:DP:GQ:PL	0/1:30,25:55:99:525,0,733	9	0	1	0
chr7	291481	291481	C	T	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon3:c.C695T:p.T232I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39381117	0.55081	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420658	0.11177	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.63205	A	.	.	2.480284	0.31981	18.91	0.61842640952053307	0.06811	0.96253	0.68242	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999872226526741	0.44625	0.095506	0.02484	0	0.063388	0.01293	0	0.104817	0.03109	0	0.109499	0.03221	0	0.674181	0.42264	4.55	4.55	0.55429	4.013000	0.56850	3.862000	0.40142	-0.300000	0.06199	0.998000	0.41325	0.220000	0.23707	0.057000	0.15750	0.0:0.8423:0.1577:0.0	13.431	0.60507	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	37.32	3	chr7	291481	.	C	T	37.32	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.967;DP=17;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:32:0|1:291461_C_A:46,0,32:291461	8	0	1	1
chr7	500473	500473	G	A	exonic	PDGFA	.	nonsynonymous SNV	PDGFA:NM_002607:exon6:c.C607T:p.R203W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0330417044618	7.7e-05	.	4.971e-05	0	0	0	0.0006	1.511e-05	0	6.06e-05	3.88e-05	6	154602	rs375414569	2.6e-05	2.599e-05	2.995e-05	2.2e-05	0.0002	1.933e-05	1.692e-05	1.093e-05	8.81e-06	0	2.236e-05	0	0	0.0002	0.0002	1.709e-05	3.312e-05	2.319e-05	3.942e-05	3.94e-05	5.138e-05	2.69e-05	6.545e-05	1.715e-05	1.129e-05	.	.	0	0	6.545e-05	0	0	0.0004	0	0	0.0005	0	0.074	0.34621	T	0.002	0.79402	D	1.0	0.90584	D	0.99	0.78936	D	0.029207	0.25487	N	0.416661	0.951265	0.81001	D	1.745	0.45235	L	0.6	0.53731	T	-1.46	0.35792	N	0.397	0.43803	-0.5979	0.64903	T	0.224	0.58780	T	10	0.24633685	0.41897	T	0.033042	0.54698	D	0.166	0.42578	.	.	0.440341789592	0.43654	0.47662287027853545	0.47582	0.425836088096	0.42978	0.84375077486	0.88665	D	0.468893	0.80264	T	-0.0929328	0.37592	T	-0.18974	0.55614	T	0.608726978302002	0.36749	D	0.686231	0.29475	T	0.21319506	0.43692	0.2958116	0.55613	0.21319506	0.43692	0.2958116	0.55612	-7.245	0.55804	T	.	.	0.389	0.58925	A	.	.	3.464331	0.48298	22.6	0.99758695197400538	0.84851	0.83460	0.42576	D	AEFBCI	0.590982	0.58726	D	0.429299431227304	0.63039	4.530276	0.43480849839784	0.63747	4.614805	0.999309955274223	0.39077	0.372202	0.05800	0	0.546412	0.12157	0	0.486962	0.07600	0	0.508809	0.08732	0	.	.	5.34	4.44	0.53164	3.841000	0.55557	6.419000	0.55610	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8499:0.1501	14.291	0.65833	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1633.43	34	chr7	500473	.	G	A	1633.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=490;ExcessHet=0;FS=4.511;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=0.287;SOR=0.854	GT:AD:DP:GQ:PL	0/1:90,76:166:99:1645,0,1911	9	0	1	0
chr7	1500002	1500002	C	T	exonic	INTS1	.	nonsynonymous SNV	INTS1:NM_001080453:exon5:c.G566A:p.R189Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.011478676985	8.1e-05	0.000199681	3.359e-05	0	0	0	0	6.1e-05	0	0	3.23e-05	5	154602	rs373727561	1.437e-05	1.436e-05	1.09e-05	1.788e-05	0.0002	9.24e-06	7.84e-06	1.78e-05	8.93e-06	0	6.71e-05	0	0	0	0.0002	1.169e-05	6.626e-05	0	3.282e-05	3.281e-05	2.569e-05	4.027e-05	7.35e-05	1.26e-05	7.97e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	0.012	0.54683	D	0.018	0.59732	D	0.999	0.77913	D	0.905	0.64260	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.28	0.64929	M	0.84	0.47477	T	-1.89	0.44094	N	0.874	0.87157	-0.5709	0.65978	T	0.245	0.61331	T	10	0.6745923	0.70915	D	0.011479	0.29147	T	0.144	0.38394	.	.	0.467752868181	0.46400	0.6305419290404484	0.62988	.	.	0.781977176666	0.79226	T	0.404811	0.76116	T	-0.141948	0.29581	T	-0.135698	0.60489	T	0.457820981740952	0.31085	T	0.972403	0.89999	D	0.24824087	0.47809	0.18927404	0.42266	0.24824087	0.47809	0.18927404	0.42265	-4.369	0.29133	T	.	.	0.630	0.70121	P	.	.	5.234847	0.87878	29.4	0.99928542613738458	0.99222	0.98456	0.82965	D	AEFGBCI	0.920391	0.89228	D	0.633931750576007	0.75333	6.287332	0.588352390884659	0.74101	6.080498	0.999999999999773	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.24	4.24	0.49486	7.529000	0.80843	5.881000	0.50644	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.756000	0.36000	0.0:1.0:0.0:0.0	16.860	0.85880	811	0.42639	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	917.43	33	chr7	1500002	.	C	T	917.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.809;DP=378;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=0.694;SOR=0.671	GT:AD:DP:GQ:PL	0/1:28,34:62:99:929,0,737	9	0	1	0
chr7	1569176	1569176	C	G	exonic	PSMG3	.	nonsynonymous SNV	PSMG3:NM_032302:exon1:c.G164C:p.S55T,PSMG3:NM_001134340:exon2:c.G164C:p.S55T	.	435	1034	51	2	0	55	0.0259067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0065	0.00279553	0.0061	0.0015	0.0061	0	0.0011	0.0083	0.0135	0.0051	0.0061254	947	154602	rs34407549	0.0077	0.0077	0.0076	0.0078	0.0192	0.0076	0.0075	0.0163	0.0153	0.0016	0.0067	0.0120	0	0.0013	0.0192	0.0084	0.0081	0.0064	0.0056	0.0056	0.0061	0.0050	0.0096	0.0053	0.0051	0.0083	0.0079	0.0014	0	0.0096	0.0110	0	0.0008	0.0238	0.0080	0.0109	0.0058	0.046	0.40573	D	0.157	0.31730	T	0.0	0.02946	B	0.0	0.01387	B	0.131345	0.18625	N	0.605390	1	0.08975	N	1.89	0.50145	L	.	.	.	-1.06	0.27669	N	0.047	0.05542	-1.0272	0.21363	T	0.056	0.23450	T	9	0.0043592453	0.00089	T	.	.	.	0.035	0.08770	.	.	0.0551355673512	0.04727	0.25536218605587463	0.25450	0.355466565581	0.37310	0.320307970047	0.13468	T	0.014477	0.12316	T	-0.60402	0.00138	T	-0.626784	0.10660	T	0.001732008006068	0.00018	T	0.483152	0.14651	T	0.1694651	0.37464	0.14786984	0.34977	0.1694651	0.37464	0.14786984	0.34977	-3.962	0.23233	T	.	.	0.081	0.08368	B	.;.;.	.;.;.	0.724986	0.10941	7.608	0.50351747369073885	0.04369	0.14202	0.18277	N	ALL	0.216226	0.34150	N	-0.985018016093899	0.08923	0.4202696	-1.05068897391715	0.08693	0.4286672	0.999999999956974	0.74766	0.766844	0.99359	0	0.504199	0.08210	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.43	-0.55	0.11234	0.947000	0.28680	0.471000	0.18712	-0.195000	0.09104	0.251000	0.24859	0.000000	0.08366	0.159000	0.20615	0.0:0.3653:0.1506:0.484	5.261	0.14890	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	0	0	0	1	0	0	0	0.023666	0.000000	0.035326	0.029240	0.000000	0.025862	0.030488	0.007576	0.05	818.43	33	chr7	1569176	.	C	G	818.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.28;DP=383;ExcessHet=0;FS=0.907;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-1.614;SOR=0.576	GT:AD:DP:GQ:PL	0/1:33,35:68:99:830,0,761	9	0	1	0
chr7	5299106	5299106	G	A	exonic	SLC29A4	.	nonsynonymous SNV	SLC29A4:NM_001040661:exon8:c.G1001A:p.R334H,SLC29A4:NM_001300847:exon8:c.G959A:p.R320H,SLC29A4:NM_153247:exon8:c.G1001A:p.R334H	.	.	.	.	.	.	.	.	.	.	.	2398124	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.330	0.648199198921	.	0.000199681	0.0001	0	0	0	0	6.868e-05	0	0.0006	0.0001035	16	154602	rs544632146	6.448e-05	6.704e-05	4.914e-05	7.997e-05	0.0008	5.376e-05	4.99e-05	0.0006	0.0006	0	0	3.841e-05	5.046e-05	1.956e-05	0.0002	1.62e-05	9.962e-05	0.0008	3.283e-05	3.281e-05	1.285e-05	5.371e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.046	0.41364	D	0.064	0.45110	T	0.013	0.70673	B	0.006	0.61339	B	0.000037	0.55875	D	0.115711	0.948416	0.26570	N	2.32	0.66415	M	-1.45	0.80899	T	-1.76	0.41618	N	0.25	0.31478	-0.2904	0.75255	T	0.550	0.83513	D	10	0.0954673	0.17053	T	0.648199	0.97017	D	0.330	0.65226	0.381	0.39807	0.807793822827	0.80599	0.5754158721583091	0.57470	.	.	0.434295833111	0.29797	T	0.055266	0.29957	T	-0.331272	0.06016	T	-0.32533	0.41988	T	0.156597222778792	0.17617	T	0.621038	0.23867	T	0.04360679	0.06825	0.05263738	0.08711	0.04360679	0.06824	0.05263738	0.08710	-8.449	0.64416	D	.	.	0.089	0.11989	B	.;.;.	.;.;.	1.654634	0.21106	15.05	0.98121035520954858	0.38432	0.76808	0.37700	D	AEFBI	0.158258	0.28389	N	-0.337912510430796	0.27719	1.523086	-0.398707540648981	0.25036	1.374445	0.975206641896806	0.29612	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.37	3.48	0.38946	1.080000	0.30390	1.471000	0.26753	-3.387000	0.00090	0.948000	0.32982	0.925000	0.28409	0.017000	0.10941	0.1905:0.0:0.8095:0.0	8.103	0.30031	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1681.43	92	chr7	5299106	.	G	A	1681.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.6;DP=650;ExcessHet=0;FS=0.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=-0.222;SOR=0.623	GT:AD:DP:GQ:PL	0/1:50,61:111:99:1693,0,1125	9	0	1	0
chr7	5882583	5882583	T	C	exonic	OCM	.	nonsynonymous SNV	OCM:NM_001097622:exon2:c.T152C:p.I51T	.	.	.	.	.	.	.	.	.	.	.	2374585	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.508	0.12848032969	0.0003	0.000199681	0.0002	0	8.637e-05	0	0	0.0003	0	0	0.0001811	28	154602	rs200277490	0.0003	0.0003	0.0003	0.0003	0.0023	0.0003	0.0003	0.0013	0.0011	0.0001	0.0003	7.652e-05	0	1.872e-05	0.0023	0.0003	0.0002	0	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	9.626e-05	0	0.0005	0.0003	0	0	0	0.0004	0.0010	0	0.001	0.78490	D	0.002	0.79402	D	0.721	0.42361	P	0.353	0.42910	B	0.000480	0.44119	D	0.196730	0.751056	0.33929	D	1.915	0.51223	L	-0.66	0.72348	T	-3.47	0.67824	D	0.808	0.80375	-0.1476	0.78975	T	0.308	0.67822	T	10	0.68495333	0.71505	D	0.12848	0.81043	D	0.508	0.78848	.	.	0.910644444467	0.90974	0.6690638503101775	0.66844	0.256843226255	0.28250	0.794236719608	0.81087	T	0.442129	0.78641	T	-0.163424	0.26234	T	-0.14858	0.59370	T	0.24157403409481	0.22492	T	0.932607	0.74787	D	0.5304594	0.68857	0.5489012	0.73920	0.5304594	0.68858	0.5489012	0.73920	-9.731	0.72285	D	.	.	0.708	0.73288	P	.;.	.;.	4.349201	0.66783	25.0	0.99839233472709987	0.91972	0.90091	0.51001	D	AEFGI	0.656288	0.62833	D	0.295218927541368	0.55905	3.754723	0.297851038495609	0.55415	3.704436	0.0309703444197917	0.13975	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	3.61	3.61	0.40494	6.353000	0.72977	7.829000	0.70041	0.452000	0.21348	1.000000	0.71638	1.000000	0.68203	0.520000	0.29475	0.0:0.0:0.0:1.0	11.446	0.49367	934	0.15400	EF-hand domain|EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2287.43	42	chr7	5882583	.	T	C	2287.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.73;DP=551;ExcessHet=0;FS=3.444;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.96;MQRankSum=0;QD=12.64;ReadPosRankSum=-0.948;SOR=0.971	GT:AD:DP:GQ:PL	0/1:91,90:181:99:2299,0,2240	9	0	1	0
chr7	6446016	6446016	G	A	exonic	DAGLB	.	nonsynonymous SNV	DAGLB:NM_001142936:exon2:c.C184T:p.L62F,DAGLB:NM_139179:exon2:c.C184T:p.L62F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0353963048467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.51853	D	0.017	0.63109	D	0.998	0.73220	D	0.878	0.62312	P	0.000007	0.62929	D	0.000000	0.999914	0.81001	D	2.51	0.73131	M	0.76	0.50976	T	-1.55	0.54702	N	0.773	0.78167	-0.5858	0.65388	T	0.283	0.65527	T	10	0.4560276	0.58994	T	0.035396	0.56317	D	0.249	0.55752	0.403	0.43408	0.756766505432	0.75456	0.7068042102899759	0.70622	0.342738047888	0.36201	0.548847794533	0.45695	T	0.292358	0.66509	T	0.0183799	0.54163	T	-0.211375	0.53562	T	0.958694100379944	0.65337	D	0.739226	0.61165	T	0.14578447	0.33402	0.17460506	0.39869	0.14578447	0.33401	0.17460506	0.39868	-6.157	0.51388	T	.	.	0.319	0.56780	B	.;.;.;.	.;.;.;.	4.302090	0.65697	24.9	0.99868050774029971	0.94637	0.95017	0.63136	D	AEFBI	0.475681	0.51941	N	0.378248897083519	0.60244	4.211341	0.272651935433179	0.53947	3.561484	0.999999831701243	0.74766	0.732398	0.92422	0	0.627608	0.54475	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.26	4.26	0.49832	5.799000	0.68759	.	.	0.611000	0.49015	1.000000	0.71638	1.000000	0.68203	0.473000	0.28408	0.0:0.0:1.0:0.0	16.684	0.85157	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	.	.	.	.	.	.	.	.	0.05	1489.43	62	chr7	6446016	.	G	A	1489.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.06;DP=537;ExcessHet=0;FS=0.622;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.654;SOR=0.799	GT:AD:DP:GQ:PL	0/1:77,66:143:99:1501,0,1939	9	0	1	0
chr7	30446188	30446188	C	G	exonic	NOD1	.	nonsynonymous SNV	NOD1:NM_001354849:exon9:c.G2406C:p.K802N,NOD1:NM_006092:exon9:c.G2406C:p.K802N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.0689500649545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0043	0.0008	0.0007	0.0008	0.0007	0.0007	0.0008	0.0008	0.0007	4.479e-05	0.0003	2.536e-05	1.874e-05	0.0004	0.0008	0.0007	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.018	0.59732	D	0.942	0.52977	P	0.697	0.54061	P	0.000032	0.55875	D	0.190889	0.966891	0.38559	D	1.64	0.41913	L	-0.24	0.66834	T	-2.97	0.61865	D	0.635	0.64818	-0.5186	0.67966	T	0.323	0.69177	T	10	0.7050225	0.72683	D	0.06895	0.70595	D	0.177	0.44549	0.387	0.40788	0.894045435077	0.89299	0.4355661146951452	0.43473	0.617561874547	0.56189	0.462699949741	0.33681	T	0.14665	0.48435	T	-0.138881	0.30068	T	-0.43727	0.29114	T	0.985395491123199	0.76401	D	0.922508	0.71813	D	0.33777446	0.56102	0.20677517	0.44907	0.33777446	0.56102	0.20677517	0.44906	-7.6	0.58311	D	.	.	0.536	0.66190	A	.	.	4.080191	0.60688	24.2	0.99860283607025768	0.93911	0.38904	0.26093	N	AEFGBHCI	0.291813	0.40285	N	0.326417966070398	0.57508	3.918382	0.301145757670786	0.55606	3.724	0.999999999809702	0.74766	0.615465	0.37627	0	0.71359	0.82159	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.38	4.49	0.54177	1.026000	0.29708	1.366000	0.25918	0.599000	0.40250	0.992000	0.37556	0.999000	0.35428	0.998000	0.85391	0.0:0.7718:0.1502:0.078	8.934	0.34846	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	.	.	.	.	.	.	.	.	0.05556	42.05	81	chr7	30446188	.	C	G	42.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-4.286;DP=776;ExcessHet=0;FS=234.721;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=1.66;SOR=7.978	GT:AD:DP:GQ:PL	0/1:101,30:131:53:53,0,1931	8	0	1	1
chr7	30451651	30451651	T	C	exonic	NOD1	.	nonsynonymous SNV	NOD1:NM_001354849:exon6:c.A1766G:p.N589S,NOD1:NM_006092:exon6:c.A1766G:p.N589S	.	.	.	.	.	.	.	.	.	.	.	3562973	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.219	0.0472844165293	0.0002	.	9.103e-05	0	0	0.0001	0	0.0002	0	0	7.12e-05	11	154602	rs138046644	5.405e-05	5.404e-05	5.718e-05	5.088e-05	0.0002	4.411e-05	4.083e-05	5.422e-05	4.966e-05	0	0	0	2.519e-05	0	0.0002	6.655e-05	0	3.478e-05	6.585e-05	6.572e-05	7.723e-05	5.393e-05	0.0001	3.524e-05	2.622e-05	7.919e-05	6.002e-05	0	0	0	0	0	0	0	0.0001	0	0	0.403	0.10378	T	0.0	0.92824	D	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.95	0.84923	M	-0.47	0.70133	T	-0.42	0.14193	N	0.865	0.86191	-0.3163	0.74525	T	0.450	0.78455	T	10	0.7688303	0.76917	D	0.047284	0.62851	D	0.219	0.51417	.	.	0.950212023978	0.94969	0.5506166352498877	0.54987	0.584187970407	0.54108	0.495020151138	0.38134	T	0.11092	0.42601	T	-0.228172	0.16891	T	-0.350195	0.39184	T	0.272495069771961	0.23854	T	0.884712	0.60854	D	0.055037938	0.10641	0.10473879	0.25163	0.055037938	0.10641	0.10473879	0.25162	-7.917	0.60503	D	.	.	0.121	0.25100	B	.	.	3.575360	0.50375	22.9	0.99675002668254364	0.78846	0.98488	0.83308	D	AEFBI	0.665425	0.63424	D	0.596116470928059	0.72930	5.884133	0.600083669192362	0.74946	6.224475	0.999652827749984	0.41424	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.46	5.46	0.80021	6.080000	0.70936	1.588000	0.27514	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	14.720	0.68909	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	.	.	.	.	.	.	.	.	0.05	1643.43	35	chr7	30451651	.	T	C	1643.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.24;DP=499;ExcessHet=0;FS=1.925;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.292;SOR=0.653	GT:AD:DP:GQ:PL	0/1:106,68:174:99:1655,0,2459	9	0	1	0
chr7	31651224	31651224	-	G	exonic	ITPRID1	.	frameshift insertion	ITPRID1:NM_194300:exon11:c.2667dupG:p.Q891Tfs*25,ITPRID1:NM_001257968:exon12:c.2667dupG:p.Q891Tfs*25,ITPRID1:NM_001257967:exon13:c.2667dupG:p.Q891Tfs*25	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1905.39	35	chr7	31651224	.	T	TG	1905.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.232;DP=463;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-1.02;SOR=0.691	GT:AD:DP:GQ:PL	0/1:61,69:130:99:1917,0,1711	9	0	1	0
chr7	36522089	36522089	C	A	exonic	AOAH	.	stopgain	AOAH:NM_001177507:exon19:c.G1453T:p.G485X,AOAH:NM_001177506:exon20:c.G1549T:p.G517X,AOAH:NM_001637:exon20:c.G1549T:p.G517X	.	412	1108	1	1	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.000599042	0.0020	0.0005	0.0005	0.0001	0.0026	0.0030	0.0022	0.0009	0.0019728	305	154602	rs147438510	0.0027	0.0027	0.0027	0.0026	0.0032	0.0026	0.0026	0.0031	0.0031	0.0004	0.0010	3.826e-05	0	0.0016	0.0009	0.0032	0.0025	0.0007	0.0017	0.0017	0.0018	0.0017	0.0028	0.0016	0.0015	0.0025	0.0024	0.0005	0	0.0012	0	0.0002	0.0017	0	0.0028	0.0024	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	0.001178	0.39978	N	0.177180	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.862	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174182	0.71506	D	0.476586	0.94137	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	8.574721	0.97737	38	0.99412028838705724	0.63310	0.68165	0.33699	D	AEFDBI	0.075720	0.15213	N	0.894060035543365	0.91464	10.89774	0.698671777327739	0.82276	7.727536	0.999955419714364	0.48110	0.516011	0.20929	0	0.610034	0.51514	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.07	5.07	0.68106	4.257000	0.58607	2.589000	0.33457	0.599000	0.40250	0.744000	0.29069	0.991000	0.31484	0.897000	0.43391	0.0:1.0:0.0:0.0	13.809	0.62741	923	0.18507	.;GDSL lipase/esterase;GDSL lipase/esterase	.	.	.	.	.	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	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	878.43	36	chr7	36522089	.	C	A	878.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.5;DP=403;ExcessHet=0;FS=1.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-1.658;SOR=0.922	GT:AD:DP:GQ:PL	0/1:56,40:96:99:890,0,1175	9	0	1	0
chr7	44539148	44539148	G	A	exonic	NPC1L1	.	nonsynonymous SNV	NPC1L1:NM_001101648:exon2:c.C1249T:p.R417W,NPC1L1:NM_001300967:exon2:c.C1249T:p.R417W,NPC1L1:NM_013389:exon2:c.C1249T:p.R417W	.	425	1089	8	0	0	8	0.00365965	.	.	.	3191555	NPC1L1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.600	0.146625606804	0.0012	0.000199681	0.0013	9.623e-05	0.0003	0	0.0003	0.0019	0.0011	0.0012	0.0011449	177	154602	rs139659653	0.0012	0.0012	0.0012	0.0013	0.0019	0.0012	0.0012	0.0011	0.0011	0.0001	0.0007	0.0118	0	0.0001	0.0019	0.0012	0.0015	0.0010	0.0010	0.0010	0.0010	0.0010	0.0015	0.0008	0.0008	0.0010	0.0009	0.0001	0	0.0005	0.0121	0.0002	9.427e-05	0	0.0012	0.0009	0.0015	0.104	0.46129	T	0.002	0.83351	D	0.999	0.77913	D	0.855	0.60933	P	0.000096	0.51296	D	0.125811	0.999984	0.19238	N	2.97	0.85306	M	-2.4	0.88455	D	-2.92	0.66325	D	0.549	0.58373	0.147	0.85004	D	0.761	0.91876	D	10	0.010629088	0.00236	T	0.146626	0.82873	D	0.600	0.84183	.	.	0.935226504704	0.93455	0.7446716218337328	0.74413	0.517787163206	0.49640	0.248774603009	0.03639	T	0.228255	0.59376	T	-0.0594518	0.42992	T	0.101292	0.76994	D	0.106556107136096	0.13063	T	0.931907	0.74605	D	0.114302084	0.26985	0.0862351	0.19965	0.114302084	0.26985	0.0862351	0.19965	-6.116	0.54070	T	.	.	0.132	0.37596	B	.;.;.;.	.;.;.;.	3.534790	0.49613	22.8	0.99787104343050581	0.87308	0.50755	0.28736	D	AEFDBI	0.493239	0.52954	N	0.0518067213206006	0.44226	2.700493	-0.0926892771035825	0.35691	2.067921	0.999990532074869	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	3.13	0.35090	0.417000	0.20934	2.594000	0.33484	0.676000	0.76740	0.000000	0.06391	0.239000	0.23838	0.995000	0.73285	0.0:0.0:0.6755:0.3245	11.552	0.49980	783	0.47268	.;.;.;.	.	.	.	.	.	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	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1329.43	41	chr7	44539148	.	G	A	1329.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.28;DP=448;ExcessHet=0;FS=1.511;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.852;SOR=0.909	GT:AD:DP:GQ:PL	0/1:66,49:115:99:1341,0,1697	9	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	.	.	.	.	.	.	.	.	0.3	916.9	137	chr7	47829596	.	G	C	916.9	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.646;DP=1246;ExcessHet=22.563;FS=294.996;InbreedingCoeff=-0.914;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=0.475;SOR=11.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,28:89:86:.:.:86,0,805:.	4	0	6	0
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4375	1877.94	33	chr7	50368104	.	C	G	1877.94	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-4.104;DP=1523;ExcessHet=7.0302;FS=219.639;InbreedingCoeff=-0.6579;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=2.04;SOR=11.783	GT:AD:DP:GQ:PL	0/1:121,66:191:99:651,0,2051	1	0	7	2
chr7	73303989	73303989	G	C	exonic	NSUN5	.	nonsynonymous SNV	NSUN5:NM_001168347:exon8:c.C982G:p.P328A,NSUN5:NM_001168348:exon8:c.C868G:p.P290A,NSUN5:NM_018044:exon8:c.C982G:p.P328A,NSUN5:NM_148956:exon8:c.C982G:p.P328A	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00235833809192	0.0009	0.000399361	0.0020	9.745e-05	0.0006	0	0.0006	0.0034	0.0011	0	0.001837	284	154602	rs144929830	0.0017	0.0017	0.0016	0.0017	0.0020	0.0016	0.0016	0.0019	0.0019	0.0003	0.0009	0.0011	0	0.0009	0.0017	0.0020	0.0014	4.638e-05	0.0013	0.0013	0.0013	0.0013	0.0022	0.0011	0.0011	0.0020	0.0018	0.0003	0	0.0013	0.0009	0	0.0004	0.0034	0.0022	0.0024	0	0.71	0.05918	T	0.675	0.07946	T	0.0	0.02946	B	0.004	0.10090	B	0.329494	0.04122	N	1.377030	0.999998	0.08975	N	-0.18	0.04256	N	1.83	0.24841	T	-0.68	0.19509	N	0.085	0.10198	-0.9950	0.31299	T	0.043	0.18618	T	10	0.003260672	0.00056	T	0.002358	0.04590	T	0.027	0.05988	.	.	0.232513804876	0.22884	0.16056823750010776	0.15977	0.22100470736	0.24648	0.415536344051	0.27222	T	0.004994	0.04418	T	-0.642687	0.00080	T	-0.699316	0.05864	T	0.00341751509239633	0.00036	T	0.626337	0.24237	T	0.024873039	0.01363	0.0418132	0.04836	0.024873039	0.01363	0.0418132	0.04836	-4.218	0.27011	T	.	.	0.048	0.00114	B	.;.;.;.	.;.;.;.	-0.488892	0.01902	0.158	0.68365295328731246	0.08636	0.19435	0.20659	N	AEFBCI	0.114001	0.22472	N	-1.35826345017663	0.03041	0.1351902	-1.40417150418142	0.03209	0.1492654	0.332306089013995	0.19498	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.668105	0.65232	0	.	.	4.4	-3.88	0.03927	-0.154000	0.10116	0.937000	0.22823	-0.458000	0.05121	0.004000	0.16614	0.893000	0.27858	0.002000	0.04165	0.0:0.0865:0.7413:0.1722	13.201	0.59189	888	0.27761	.;SAM-dependent methyltransferase RsmB/NOP2-type|SAM-dependent methyltransferase RsmB/NOP2-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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1129.43	39	chr7	73303989	.	G	C	1129.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.909;DP=474;ExcessHet=0;FS=1.669;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.5;MQRankSum=-1.219;QD=11.29;ReadPosRankSum=-0.131;SOR=0.493	GT:AD:DP:GQ:PL	0/1:51,49:100:99:1141,0,1282	9	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	.	.	.	.	.	.	.	.	0.4	764.96	190	chr7	93102964	.	C	G	764.96	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-6.623;DP=1746;ExcessHet=10.3881;FS=128.174;InbreedingCoeff=-0.6656;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=-0.095;SOR=11.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:147,22:177:49:.:.:49,0,5477:.	2	0	8	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	.	.	.	.	.	.	.	.	0.5	1530.03	190	chr7	93102965	.	C	G	1530.03	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-5.233;DP=1910;ExcessHet=22.563;FS=128.174;InbreedingCoeff=-0.9987;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.483;SOR=11.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:147,30:178:99:.:.:148,0,5465:.	0	0	10	0
chr7	93103090	93103090	T	C	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.A3008G:p.N1003S,SAMD9:NM_017654:exon3:c.A3008G:p.N1003S	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	2	1504	15	1	0	17	0.00561983	.	.	.	700285	not_provided|SAMD9-related_disorder|Monosomy_7_myelodysplasia_and_leukemia_syndrome_2|Normophosphatemic_familial_tumoral_calcinosis|MIRAGE_syndrome|not_specified	MedGen:C3661900|.|MONDO:MONDO:0030801,MedGen:C5436668,OMIM:619041|MONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455,Orphanet:306658,Orphanet:53715|MONDO:MONDO:0014888,MedGen:C4284088,OMIM:617053,Orphanet:494433|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.00166449485854	0.0011	0.00139776	0.0016	0	0	0	0.0014	0.0018	0	0.0039	0.0014165	219	154602	rs146087534	0.0011	0.0011	0.0009	0.0013	0.0044	0.0010	0.0010	0.0041	0.0039	0.0001	6.709e-05	0.0049	0	0.0015	0.0017	0.0008	0.0012	0.0044	0.0010	0.0010	0.0012	0.0008	0.0048	0.0009	0.0008	0.0033	0.0028	0	0.0022	0.0002	0.0046	0	0.0010	0	0.0014	0	0.0048	0.524	0.08384	T	0.607	0.07766	T	0.001	0.07471	B	0.001	0.04355	B	0.306339	0.03987	N	1.562160	1	0.08975	N	-0.205	0.04094	N	2.06	0.20523	T	-0.16	0.09460	N	0.034	0.00942	-1.0068	0.27912	T	0.026	0.11087	T	10	0.0070096552	0.00159	T	0.001664	0.02728	T	0.021	0.04004	.	.	0.236890367714	0.23314	0.13326230050143367	0.13250	0.119802300629	0.13497	0.281596302986	0.07715	T	0.002163	0.06460	T	-0.718153	0.00028	T	-0.80551	0.01768	T	0.00708051648783643	0.00081	T	0.514549	0.16570	T	0.04568088	0.07518	0.036580313	0.03134	0.04568088	0.07518	0.036580313	0.03134	-1.471	0.01706	T	0.06905291115663832	0.02557	0.062	0.01512	B	.;.;.	.;.;.	0.348753	0.07221	3.814	0.26150751685118251	0.01239	0.13109	0.17668	N	AEFBI	0.128610	0.24644	N	-0.993866258884984	0.08734	0.4106606	-0.930594312053717	0.11374	0.5790482	0.0214806124056829	0.13352	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.645948	0.59608	0	.	.	4.79	0.837	0.18032	0.482000	0.21985	0.685000	0.20714	0.643000	0.52288	0.000000	0.06391	0.001000	0.17328	0.104000	0.18471	0.0:0.1903:0.2439:0.5657	5.079	0.13984	805	0.43675	.;.;.	.	.	.	.	.	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	0.001359	0.002924	0.000000	0.000000	0.003049	0.003788	0.1	4495.14	98	chr7	93103090	.	T	C	4495.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.805;DP=1033;ExcessHet=0.2348;FS=1.744;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=0.544;SOR=0.848	GT:AD:DP:GQ:PL	0/1:115,94:209:99:2366,0,2921	8	0	2	0
chr7	95203710	95203712	AAT	-	exonic	PPP1R9A	.	nonframeshift deletion	PPP1R9A:NM_001166160:exon7:c.1936_1938del:p.N648del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0	0	0	0	0.0003	0.0045	0.0023	0.0001423	22	154602	rs771879691	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	6.337e-05	8.429e-05	0	0	0	0.0016	1.577e-05	0.0002	0.0023	9.854e-05	9.843e-05	6.426e-05	0.0001	0.0019	6.005e-05	4.879e-05	0.0010	0.0007	0	0	0	0	0	0	0.0068	4.412e-05	0.0005	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1387.39	34	chr7	95203709	.	CAAT	C	1387.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.091;DP=405;ExcessHet=0;FS=4.054;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=-2.049;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,38:90:99:0|1:95203709_CAAT_C:1399,0,1988:95203709	9	0	1	0
chr7	99876805	99876805	T	C	exonic	OR2AE1	.	nonsynonymous SNV	OR2AE1:NM_001005276:exon1:c.A229G:p.I77V	.	428	1091	3	0	0	3	0.001373	.	.	.	2758180	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.0022912183064	7.7e-05	.	0.0004	0	8.637e-05	0	0	0.0004	0.0022	0.0007	0.0002911	45	154602	rs140190815	0.0002	0.0002	0.0001	0.0002	0.0017	0.0002	0.0002	0.0009	0.0007	0	0	0.0014	0	3.744e-05	0.0017	0.0001	0.0003	0.0009	0.0001	0.0001	0.0001	0.0002	0.0004	9.755e-05	8.268e-05	0.0001	8.883e-05	0	0	0	0.0017	0	9.466e-05	0	0.0002	0	0.0004	0.217	0.19157	T	0.369	0.16522	T	0.0	0.02946	B	0.0	0.01387	B	0.000891	0.41231	D	0.000000	1	0.08975	N	0.895	0.22405	L	6.23	0.00568	T	0.02	0.06739	N	0.018	0.00252	-0.8987	0.48125	T	0.002	0.00497	T	10	0.0116354525	0.00253	T	0.002291	0.04397	T	0.035	0.08770	.	.	0.12205267543	0.11705	0.047595889985188704	0.04702	0.0337626008877	0.03542	0.317682445049	0.13069	T	1.78E-4	0.00028	T	-0.626735	0.00100	T	-0.773875	0.02643	T	0.0591557821648618	0.07034	T	0.644036	0.25562	T	0.047725577	0.08205	0.04742206	0.06826	0.047725577	0.08204	0.04742206	0.06826	-3.928	0.22723	T	.	.	0.080	0.07937	B	.	.	1.284547	0.16845	12.80	0.65438101471371335	0.07772	0.27032	0.23163	N	AEFDGBHCI	0.073847	0.14783	N	-1.14103553689941	0.05929	0.271597	-1.17642319616828	0.06306	0.3030888	0.999999083257723	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.547309	0.15389	0	0.478617	0.07155	0	.	.	3.63	1.19	0.20120	0.280000	0.18550	1.730000	0.28322	-0.217000	0.08171	0.000000	0.06391	0.979000	0.30280	0.007000	0.07825	0.1776:0.1044:0.0:0.718	4.268	0.10218	174	0.93268	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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	1914.43	43	chr7	99876805	.	T	C	1914.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.149;DP=516;ExcessHet=0;FS=0.613;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.15;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,71:148:99:1|0:99876804_A_G:1926,0,3010:99876804	9	0	1	0
chr7	100118437	100118437	T	C	exonic	TAF6	.	nonsynonymous SNV	TAF6:NM_001365004:exon2:c.A38G:p.Q13R	Alazami-Yuan syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	31.36	1	chr7	100118437	.	T	C	31.36	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=7.84;ReadPosRankSum=-0.431;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,37	4	0	1	5
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	.	.	.	.	.	.	.	.	0.5	6711.04	102	chr7	100175805	.	G	C	6711.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.794;DP=1021;ExcessHet=22.563;FS=312.371;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=1.2;SOR=11.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,51:107:99:0|1:100175805_G_C:1204,0,1748:100175805	0	0	10	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	0.05	934.43	34	chr7	100751208	.	C	G	934.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=374;ExcessHet=0;FS=5.265;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=1.38;SOR=1.318	GT:AD:DP:GQ:PL	0/1:27,33:60:99:946,0,637	9	0	1	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	2147.25	93	chr7	100773851	.	A	*	2147.25	.	AC=11;AF=0.55;AN=20;DP=894;ExcessHet=0.0952;FS=0;InbreedingCoeff=0.3407;MLEAC=11;MLEAF=0.55;MQ=60;QD=2.73;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,112:112:99:1|1:100773849_CCAT_C:5023,337,0:100773849	2	3	5	0
chr7	100779666	100779666	C	T	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon35:c.C6538T:p.L2180F,ZAN:NM_173059:exon35:c.C6538T:p.L2180F	.	414	1084	24	0	0	24	0.0109489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.01989167839	0.0007	0.000998403	0.0031	0	0	0	0.0010	0.0036	0	0.0048	0.0013001	201	154602	rs368183208	0.0014	0.0014	0.0012	0.0015	0.0088	0.0013	0.0013	0.0068	0.0061	0.0002	0.0005	0.0003	0	0.0002	0.0088	0.0013	0.0017	0.0045	0.0009	0.0009	0.0007	0.0011	0.0025	0.0008	0.0007	0.0014	0.0011	0.0003	0	0.0016	0	0	9.413e-05	0.0136	0.0011	0.0038	0.0025	.	.	.	0.091	0.40426	T	0.907	0.50062	P	0.642	0.52168	P	0.650508	0.10517	N	0.773450	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.095	0.08646	-0.5645	0.66231	T	0.379	0.73640	T	9	0.049238354	0.04484	T	0.019892	0.42364	T	0.283	0.60100	.	.	0.0401082797425	0.02173	0.6052475545878986	0.60455	0.0746738777092	0.08380	0.309243559837	0.11792	T	0.126171	0.45237	T	-0.328308	0.06241	T	-0.243964	0.50411	T	0.102104824956605	0.12587	T	0.569643	0.20265	T	0.046199527	0.07691	0.06566402	0.13342	0.046199527	0.07691	0.06566402	0.13342	-7.077	0.57491	T	.	.	0.107	0.20235	B	.;.;.;.	.;.;.;.	1.834756	0.23309	15.97	0.99104606594449074	0.52572	0.28562	0.23588	N	AEFBI	0.068160	0.13433	N	-0.216513731733043	0.32457	1.830584	-0.335393843403519	0.26965	1.493027	8.95811513548799E-6	0.01202	0.06567	0.01388	0	0.059962	0.00310	0	0.044551	0.00207	1	0.075334	0.01956	0	.	.	4.17	2.29	0.27658	1.386000	0.34025	0.521000	0.19165	-0.175000	0.10903	0.892000	0.31242	0.087000	0.22477	0.020000	0.11549	0.2413:0.6457:0.0:0.113	4.804	0.12677	684	0.59539	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006566	0.005051	0.006793	0.014881	0.000000	0.000000	0.003067	0.007576	0.1	2573.14	40	chr7	100779666	.	C	T	2573.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.418;DP=494;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.068;SOR=0.677	GT:AD:DP:GQ:PL	0/1:51,66:117:99:1529,0,1165	8	0	2	0
chr7	100792460	100792460	C	T	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon42:c.C7768T:p.R2590C,ZAN:NM_173059:exon42:c.C7768T:p.R2590C	.	405	1116	1	0	0	1	0.000447828	.	.	.	2840637	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.487	0.0278831712889	0.0002	.	0.0002	0	8.672e-05	0.0005	0	0.0002	0.0023	0.0002	0.0001682	26	154602	rs373588495	8.484e-05	8.619e-05	8.033e-05	8.94e-05	0.0002	7.21e-05	6.798e-05	1.779e-05	1.151e-05	0	6.71e-05	0.0027	5.038e-05	0	0.0002	2.069e-05	0.0003	4.639e-05	0.0001	0.0001	0.0002	9.413e-05	0.0005	8.665e-05	7.256e-05	0.0002	0.0002	0	0	0.0005	0.0026	0.0004	0	0	2.94e-05	0	0	.	.	.	0.001	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.084101	0.20716	N	0.253625	0.633389	0.81001	D	.	.	.	.	.	.	.	.	.	0.614	0.70966	0.100	0.84176	D	0.570	0.84417	D	8	0.13671622	0.26011	T	0.027883	0.50642	D	0.487	0.77528	.	.	0.243972157842	0.24002	0.6015771056882553	0.60088	0.093218127879	0.10534	0.473119139671	0.35109	T	0.070055	0.33864	T	0.00104724	0.51799	T	-0.0105704	0.69647	D	0.19175098534936	0.19947	T	0.886711	0.61387	D	0.11475232	0.27088	0.07396136	0.16131	0.11475232	0.27088	0.07396136	0.16130	-7.39	0.74520	T	.	.	0.215	0.44462	B	.;.;.;.	.;.;.;.	3.433882	0.47740	22.5	0.99895183239137664	0.96819	0.57105	0.30290	D	AEFBI	0.117463	0.23010	N	0.224750146653707	0.52402	3.414492	0.117262161747066	0.45431	2.806443	0.999751667230755	0.42595	0.065574	0.01310	0	0.059962	0.00310	0	0.078125	0.02361	0	0.041896	0.00087	0	.	.	3.39	3.39	0.37919	0.621000	0.24112	-0.404000	0.09391	0.599000	0.40250	0.024000	0.20007	0.000000	0.08366	0.867000	0.41218	0.0:1.0:0.0:0.0	10.585	0.44467	693	0.58582	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1663.43	38	chr7	100792460	.	C	T	1663.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.876;DP=459;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-1.821;SOR=0.664	GT:AD:DP:GQ:PL	0/1:63,69:132:99:1675,0,1366	9	0	1	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	2395.99	585	chr7	100952945	.	C	*	2395.99	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.589;DP=6147;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=7;MLEAF=0.35;MQ=58.41;MQRankSum=-8.207;QD=0.39;ReadPosRankSum=3.15;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:518,171:749:99:0|1:100952942_T_G:5621,0,21236:100952942	3	0	7	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6958.44	427	chr7	100953156	.	C	*	6958.44	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.64;DP=5266;ExcessHet=22.563;FS=8.617;InbreedingCoeff=-1;MLEAC=7;MLEAF=0.35;MQ=57.64;MQRankSum=-15.09;QD=1.34;ReadPosRankSum=1.11;SOR=1.233	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:368,162:603:99:0|1:100953098_G_C:5695,0,14965:100953098	3	0	7	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	1072.04	423	chr7	100953158	.	G	*	1072.04	.	AC=9;AF=0.45;AN=20;BaseQRankSum=3.81;DP=5175;ExcessHet=22.563;FS=12.462;InbreedingCoeff=-1;MLEAC=9;MLEAF=0.45;MQ=57.63;MQRankSum=-15.35;QD=0.21;ReadPosRankSum=1.34;SOR=1.511	GT:AD:DP:GQ:PL	0/1:368,153:592:99:5317,0,14992	1	0	9	0
chr7	100955762	100955762	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C3983A:p.T1328N	.	896	620	5	1	0	7	0.00561347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214958271	5.682e-05	0.0008	5.395e-05	5.961e-05	0.0004	3.408e-05	2.801e-05	6.753e-05	2.83e-05	0.0001	0.0002	0	0	0	0	4.124e-05	0.0002	0.0004	0.0001	0.0020	8.197e-05	0.0001	0.0003	5.702e-05	4.262e-05	8.522e-05	4.5e-05	0.0001	0	0.0003	0	0	0	0	6.966e-05	0.0008	0	.	.	.	0.261	0.22962	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05929	.	.	.	.	.	.	.	0.059814572	0.07250	T	.	.	.	.	.	.	.	.	.	0.014401527505176325	0.01397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266973	0.04402	T	.	.	.	.	.	.	.	.	-7.856	0.60085	D	.	.	0.136	0.29588	B	.;.	.;.	-0.671401	0.01388	0.080	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.660000	0.00449	-9.811000	0.00774	-0.395000	0.05324	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	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	.	.	.	.	.	.	.	.	0.25	1336.63	513	chr7	100955762	.	C	A	1336.63	.	AC=1;AF=0.25;AN=4;BaseQRankSum=3.35;DP=5237;ExcessHet=0;FS=2.909;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.5;MQ=57.95;MQRankSum=-12.83;QD=2.6;ReadPosRankSum=-6.101;SOR=0.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:450,65:515:99:0|1:100955762_C_A:1340,0,12736:100955762	1	0	1	8
chr7	100955779	100955779	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4000G:p.P1334A	.	1102	405	8	1	6	16	0.0121951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1313584776	0.0003	0.0013	0.0001	0.0005	0.0020	0.0002	0.0002	0.0002	0.0001	0.0004	0.0007	0	0	0.0007	0.0020	0.0003	0.0004	0	0.0007	0.0059	0.0005	0.0008	0.0013	0.0005	0.0004	0.0006	0.0004	0.0008	0.0032	0.0013	0.0008	0	0.0009	0	0.0004	0.0014	0	.	.	.	0.336	0.18449	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.031654388	0.01303	T	.	.	.	.	.	.	.	.	.	0.010190083516641869	0.00981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248875	0.04334	T	.	.	.	.	.	.	.	.	-2.749	0.07724	T	.	.	0.066	0.02065	B	.;.	.;.	-0.602833	0.01564	0.103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.412000	0.02582	-2.564000	0.03604	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	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	.	.	.	.	.	.	.	.	0.25	2421.43	606	chr7	100955779	.	C	G	2421.43	.	AC=1;AF=0.25;AN=4;BaseQRankSum=1.92;DP=6122;ExcessHet=0;FS=19.023;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.5;MQ=57.26;MQRankSum=-21.05;QD=4.48;ReadPosRankSum=-6.637;SOR=1.897	GT:AD:DP:GQ:PL	0/1:450,90:604:99:2425,0,18625	1	0	1	8
chr7	100955783	100955783	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4004A:p.T1335K	.	931	584	6	1	0	8	0.00680272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1353275951	8.032e-05	0.0016	5.446e-05	0.0001	0.0007	5.355e-05	4.472e-05	3.205e-05	2.39e-05	0.0001	0.0001	0	0	0.0003	0.0007	5.953e-05	5.806e-05	0.0002	0.0008	0.0049	0.0007	0.0009	0.0014	0.0006	0.0005	0.0008	0.0006	0.0010	0.0026	0.0014	0.0007	0	0.0009	0	0.0005	0.0012	0.0005	.	.	.	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.12055	.	.	.	.	.	.	.	0.047530502	0.04083	T	.	.	.	.	.	.	.	.	.	0.027707913494658065	0.02720	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214079	0.02639	T	.	.	.	.	.	.	.	.	-4.934	0.36115	T	.	.	0.159	0.35119	B	.;.	.;.	0.086628	0.04912	1.492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.529000	0.02327	-4.631000	0.02060	-2.911000	0.00159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	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	.	.	.	.	.	.	.	.	0.25	2577.63	639	chr7	100955783	.	C	A	2577.63	.	AC=1;AF=0.25;AN=4;BaseQRankSum=2.82;DP=6416;ExcessHet=0;FS=3.669;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.5;MQ=57.08;MQRankSum=-15.3;QD=4.05;ReadPosRankSum=-2.215;SOR=1.016	GT:AD:DP:GQ:PL	0/1:535,101:636:99:2581,0,22115	1	0	1	8
chr7	100958461	100958461	-	CCACTGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTTGATCACCACCACGGAGACCACCTCACACAGTACTCCCAGCTTCATTTCTTTGATAACCACCTCTGAGACCCCCTCACACAGTACTCCCAGCTTCACTTCTTTGATCACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCGATCACCACCACCGACTCGATCGTCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCAGCACCACTGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCGATCACCATCACTGAGACCACCTCACACAGTACTCCCAGCTACACTACCTCAATCACCAGCACCAAGACCCCCTCACACAGTACTCCCAGCTACACTACCTCAATCACCACCACTGAGATCCCATCACACAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCAGGACCACTGAGACCACCTCTCATAGTACTCCCAGCTTCACTTCTTCAATCATCG	exonic	MUC3A	.	nonframeshift insertion	MUC3A:NM_005960:exon2:c.6682_6683insCCACTGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTTGATCACCACCACGGAGACCACCTCACACAGTACTCCCAGCTTCATTTCTTTGATAACCACCTCTGAGACCCCCTCACACAGTACTCCCAGCTTCACTTCTTTGATCACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCGATCACCACCACCGACTCGATCGTCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCAGCACCACTGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCGATCACCATCACTGAGACCACCTCACACAGTACTCCCAGCTACACTACCTCAATCACCAGCACCAAGACCCCCTCACACAGTACTCCCAGCTACACTACCTCAATCACCACCACTGAGATCCCATCACACAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCAGGACCACTGAGACCACCTCTCATAGTACTCCCAGCTTCACTTCTTCAATCATCG:p.P2237_G2238insSFTSLITTTETTSHSTPSFISLITTSETPSHSTPSFTSLITTTETPSSSTPSFTSSITTTDSIVTTETTSHSTPSFTSSISTTETTSHSTPSFTSSITITETTSHSTPSYTTSITSTKTPSHSTPSYTTSITTTEIPSHSTPSFTSSITTTETTSHSTPSFTSSIRTTETTSHSTPSFTSSIIATETTSHSTP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	13271.4	1231	chr7	100958461	.	A	ACCACTGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTTGATCACCACCACGGAGACCACCTCACACAGTACTCCCAGCTTCATTTCTTTGATAACCACCTCTGAGACCCCCTCACACAGTACTCCCAGCTTCACTTCTTTGATCACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCGATCACCACCACCGACTCGATCGTCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCAGCACCACTGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCGATCACCATCACTGAGACCACCTCACACAGTACTCCCAGCTACACTACCTCAATCACCAGCACCAAGACCCCCTCACACAGTACTCCCAGCTACACTACCTCAATCACCACCACTGAGATCCCATCACACAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCAGGACCACTGAGACCACCTCTCATAGTACTCCCAGCTTCACTTCTTCAATCATCG	13271.4	.	AC=1;AF=0.05;AN=20;DP=10252;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.93;QD=28.46;SOR=0.585	GT:AD:DP:GQ:PL	0/1:156,32:244:99:13283,0,2395	9	0	1	0
chr7	101004493	101004493	C	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C13930G:p.P4644A	.	497	958	63	4	0	71	0.0357323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0046	0.00479233	0.0145	0.0024	0.0118	0	0.0123	0.0076	0.0474	0.0250	0.0032273	84	26028	rs111307353	0.0069	0.0067	0.0061	0.0076	0.0280	0.0067	0.0067	0.0270	0.0267	0.0010	0.0041	0.0033	0.0003	0.0116	0.0251	0.0056	0.0066	0.0280	0.0056	0.0058	0.0049	0.0063	0.0213	0.0053	0.0051	0.0179	0.0166	0.0011	0	0.0024	0.0038	0.0006	0.0153	0.0214	0.0067	0.0117	0.0213	0.143	0.25355	T	0.911	0.02952	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.51	0.14284	T	-0.14	0.16393	N	0.015	0.02088	-0.9552	0.40060	T	0.009	0.03096	T	6	0.0037515461	0.00070	T	.	.	.	0.011	0.01250	.	.	.	.	0.0013067610022922437	0.00120	.	.	0.444512039423	0.31193	T	0.006206	0.05647	T	-0.726623	0.00025	T	-0.796248	0.01998	T	0.0023018370117503	0.00024	T	0.213379	0.02617	T	0.02942691	0.02434	0.0741683	0.16195	0.02942691	0.02434	0.0741683	0.16195	1.834	0.00060	T	.	.	0.064	0.02609	B	.;.	.;.	-0.677403	0.01374	0.078	0.1196446150949034	0.00195	0.00081	0.00551	N	AEFBI	0.023841	0.01386	N	-1.4625874373199	0.02120	0.0932634	-1.63058557593802	0.01479	0.06695312	4.06484876756422E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.131	-0.261	0.12322	-0.330000	0.07968	.	.	-1.011000	0.01765	0.000000	0.06391	.	.	0.001000	0.02609	.	.	.	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	0.015625	0.005435	0.000000	0.000000	0.083333	0.045455	0.023810	0.048780	0.05	3438.43	90	chr7	101004493	.	C	G	3438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.89;DP=791;ExcessHet=0;FS=2.2;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.86;MQRankSum=-0.851;QD=13.86;ReadPosRankSum=1.07;SOR=0.557	GT:AD:DP:GQ:PL	0/1:113,135:248:99:3450,0,2688	9	0	1	0
chr7	105614066	105614066	G	C	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_138495:exon8:c.C1896G:p.D632E,ATXN7L1:NM_001318229:exon10:c.C1620G:p.D540E,ATXN7L1:NM_001385596:exon10:c.C2268G:p.D756E,ATXN7L1:NM_020725:exon10:c.C2268G:p.D756E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00424335358371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.12469	T	1.0	0.02548	T	0.005	0.18474	B	0.004	0.16460	B	0.000132	0.49741	D	0.138750	0.519982	0.31889	D	0.26	0.09897	N	1.61	0.28391	T	-0.19	0.09965	N	0.147	0.15046	-1.0469	0.15274	T	0.041	0.17573	T	10	0.10052198	0.18311	T	0.004243	0.10247	T	0.064	0.18567	0.097	0.01334	0.449283877778	0.44552	0.20088776075350473	0.20005	0.385026323921	0.39793	0.676552057266	0.63775	T	7.73E-4	0.01826	T	-0.215272	0.18644	T	-0.547	0.17614	T	0.663197338581085	0.39037	D	0.756224	0.39120	T	0.07353326	0.16438	0.0722084	0.15551	0.07353326	0.16438	0.0722084	0.15551	-4.221	0.27055	T	.	.	0.124	0.55438	B	.;.;.;.	.;.;.;.	2.105740	0.26793	17.24	0.47757704324101108	0.03930	0.83841	0.42935	D	AEFDBCI	0.391753	0.47007	N	-0.273951466123109	0.30158	1.678963	-0.0533374508611656	0.37345	2.185429	0.998690061336663	0.37477	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.41	4.33	0.51083	2.710000	0.46837	5.043000	0.46929	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.081:0.0:0.7785:0.1405	9.900	0.40514	921	0.19240	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	401.13	131	chr7	105614066	.	G	C	401.13	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.742;DP=1081;ExcessHet=1.5895;FS=151.643;InbreedingCoeff=-0.2631;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=1.66;SOR=9.84	GT:AD:DP:GQ:PL	0/1:71,22:93:44:44,0,1418	6	0	4	0
chr7	106017935	106017935	C	T	exonic	CDHR3	.	nonsynonymous SNV	CDHR3:NM_001301161:exon11:c.C1252T:p.L418F,CDHR3:NM_152750:exon12:c.C1516T:p.L506F	.	428	1081	13	0	0	13	0.00597701	.	.	.	1284223	Susceptibility_to_nonsyndromic_otitis_media|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.408	.	0.0045	0.00359425	0.0062	0.0021	0.0071	0	0.0032	0.0088	0.0129	0.0016	0.0045666	706	154602	rs76067797	0.0049	0.0049	0.0049	0.0049	0.0177	0.0048	0.0047	0.0149	0.0139	0.0019	0.0050	0.0066	7.56e-05	0.0031	0.0177	0.0053	0.0056	0.0022	0.0042	0.0042	0.0044	0.0039	0.0061	0.0039	0.0038	0.0057	0.0055	0.0014	0	0.0044	0.0046	0.0002	0.0040	0.0204	0.0061	0.0090	0.0008	0.044	0.44029	D	0.051	0.47828	T	0.884	0.48618	P	0.622	0.51475	P	0.273709	0.03788	N	1.539750	1	0.08975	N	1.7	0.43825	L	-1.66	0.82715	D	-1.04	0.27876	N	0.071	0.04426	-0.5679	0.66099	T	0.431	0.77284	T	10	0.004099518	0.00080	T	.	.	.	0.408	0.72022	.	.	0.624018827985	0.62096	0.08811006681072454	0.08744	0.0395402123316	0.04217	0.210277408361	0.00823	T	0.003737	0.13282	T	-0.421169	0.01681	T	-0.375284	0.36272	T	0.0159610453110415	0.00379	T	0.508249	0.16760	T	0.0897766	0.20988	0.082048506	0.18695	0.0897766	0.20988	0.082048506	0.18694	-5.089	0.37791	T	.	.	0.073	0.05756	B	.;.	.;.	1.581865	0.20241	14.66	0.99604673751152728	0.74397	0.07323	0.13344	N	AEFDBHCIJ	0.063896	0.12377	N	-0.332726579874717	0.27912	1.535229	-0.515309838379762	0.21738	1.177336	0.999999985873122	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.48	-1.88	0.07294	-0.149000	0.10189	0.256000	0.16486	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.969000	0.54022	0.3165:0.3288:0.2086:0.1462	1.712	0.02718	925	0.17918	Cadherin-like|Cadherin-like;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	1	0	0	0	0.020141	0.020202	0.020380	0.035088	0.000000	0.025862	0.015244	0.011364	0.05	1903.43	36	chr7	106017935	.	C	T	1903.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=477;ExcessHet=0;FS=1.279;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-0.005;SOR=0.848	GT:AD:DP:GQ:PL	0/1:86,75:161:99:1915,0,2148	9	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	0.3889	3155.34	233	chr7	128479325	.	T	C	3155.34	.	AC=7;AF=0.389;AN=18;BaseQRankSum=3.39;DP=2112;ExcessHet=7.0302;FS=50.038;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.389;MQ=57.37;MQRankSum=-12.3;QD=2.18;ReadPosRankSum=-3.823;SOR=5.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,28:221:99:0|1:128479325_T_C:595,0,7981:128479325	2	0	7	1
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	0.4375	3209.13	233	chr7	128479326	.	G	C	3209.13	.	AC=7;AF=0.438;AN=16;BaseQRankSum=2.7;DP=2129;ExcessHet=7.0302;FS=50.038;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.5;MQ=57.39;MQRankSum=-12.3;QD=2.21;ReadPosRankSum=-3.844;SOR=5.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,28:221:99:0|1:128479325_T_C:595,0,7981:128479325	1	0	7	2
chr7	132130556	132130556	G	A	exonic	PLXNA4	.	nonsynonymous SNV	PLXNA4:NM_020911:exon32:c.C5608T:p.H1870Y	.	419	1071	30	2	0	34	0.015625	.	.	.	3192562	PLXNA4-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.179	0.0145389197481	0.0037	0.00239617	0.0034	0.0007	0.0032	0	0.0014	0.0038	0.0044	0.0061	0.0032406	501	154602	rs150228337	0.0034	0.0034	0.0033	0.0036	0.0168	0.0034	0.0033	0.0141	0.0131	0.0005	0.0034	0.0091	0	0.0012	0.0168	0.0032	0.0046	0.0072	0.0030	0.0030	0.0030	0.0031	0.0050	0.0028	0.0027	0.0041	0.0037	0.0009	0.0395	0.0050	0.0078	0	0.0014	0.0204	0.0034	0.0047	0.0048	0.015	0.52492	D	0.008	0.67890	D	0.158	0.28271	B	0.044	0.24394	B	0.000008	0.62929	D	0.112116	0.999998	0.58761	D	0.345	0.11182	N	5.56	0.00864	T	-1.9	0.44284	N	0.282	0.31925	-0.3632	0.73168	T	0.002	0.00707	T	10	0.0074129403	0.00169	T	0.014539	0.34724	T	0.179	0.44899	.	.	0.102598925029	0.09809	0.1172842649708978	0.11656	0.773028615112	0.64876	0.389258414507	0.23565	T	0.175158	0.52464	T	-0.457932	0.01013	T	-0.426279	0.30358	T	0.0214244670018664	0.00845	T	0.70513	0.31558	T	0.14211065	0.32717	0.211634	0.45600	0.14211065	0.32716	0.211634	0.45599	-6.958	0.53727	T	.	.	0.090	0.12465	B	.;.	.;.	3.855395	0.55878	23.7	0.98688942737168184	0.44723	0.99491	0.96677	D	AEFDGBIJ	0.930001	0.91663	D	0.0916011758752532	0.46070	2.853277	0.312116949463604	0.56251	3.788185	1.0	0.98316	0.706548	0.73137	0	0.59043	0.45803	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	8.088000	0.89344	8.627000	0.77836	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.0:0.0:1.0:0.0	19.340	0.94324	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	0	0	1	0	0.010574	0.000000	0.012228	0.002924	0.000000	0.000000	0.018293	0.022727	0.05	1829.43	105	chr7	132130556	.	G	A	1829.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.601;DP=1272;ExcessHet=0;FS=1.216;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-1.094;SOR=0.732	GT:AD:DP:GQ:PL	0/1:88,77:165:99:1841,0,2095	9	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	0.3	5577.98	367	chr7	152229940	.	A	G	5577.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-1.129;DP=2706;ExcessHet=4.5998;FS=0;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=44.55;MQRankSum=0.883;QD=3.72;ReadPosRankSum=0.293;SOR=0.714	GT:AD:DP:GQ:PL	0/1:191,48:239:99:572,0,6431	4	0	6	0
chr8	2079577	2079577	G	A	exonic	MYOM2	.	nonsynonymous SNV	MYOM2:NM_003970:exon13:c.G1480A:p.E494K	.	421	1100	1	0	0	1	0.000454339	.	.	.	2346197	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.111	0.0103279850911	0.0002	0.000199681	0.0001	0.0012	0.0002	0	0	1.498e-05	0	0	0.0001035	16	154602	rs138854390	5.678e-05	5.746e-05	6.262e-05	5.088e-05	0.0016	4.676e-05	4.301e-05	0.0013	0.0012	0.0016	0.0001	0	0	0	0.0005	2.698e-06	0.0003	1.159e-05	0.0004	0.0004	0.0003	0.0005	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0.0002	0	0	0	0	1.47e-05	0	0	0.898	0.02436	T	0.919	0.02882	T	.	.	.	.	.	.	0.110140	0.19455	N	0.527351	1	0.81001	D	.	.	.	0.74	0.50459	T	-0.05	0.07736	N	0.227	0.25499	-1.0718	0.09022	T	0.083	0.32499	T	10	0.026997864	0.00854	T	0.010328	0.26741	T	0.111	0.31313	.	.	0.599859248137	0.59666	0.27939611149503224	0.27852	0.00840729258209	0.00763	0.344211697578	0.17066	T	.	.	.	-0.485207	0.00690	T	-0.526091	0.19678	T	0.0136030649047928	0.00252	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.34071	B	.	.	2.043034	0.25971	16.95	0.73848754645259795	0.10477	0.84493	0.43575	D	AEFDBHCIJ	0.275645	0.39056	N	-0.473732770974848	0.22944	1.228653	-0.340488080046915	0.26804	1.482991	0.999999396458713	0.74766	0.59774	0.34471	0	0.615948	0.52940	0	0.596394	0.31383	0	0.63947	0.58350	0	.	.	5.26	3.43	0.38372	3.918000	0.56144	6.462000	0.55696	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.348000	0.25613	0.0707:0.1278:0.8015:0.0	11.083	0.47291	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1468.43	34	chr8	2079577	.	G	A	1468.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=428;ExcessHet=0;FS=1.702;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=-0.319;SOR=0.683	GT:AD:DP:GQ:PL	0/1:39,55:94:99:1480,0,845	9	0	1	0
chr8	3230165	3230165	C	G	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon27:c.G4220C:p.R1407T	.	420	1076	25	1	0	27	0.012391	.	.	.	711501	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.159	.	0.0051	0.00239617	0.0059	0.0005	0.0021	0	0.0031	0.0066	0.0046	0.0135	0.0053622	829	154602	rs147245019	0.0057	0.0057	0.0053	0.0062	0.0135	0.0056	0.0056	0.0128	0.0125	0.0005	0.0028	0.0036	0.0001	0.0034	0.0135	0.0057	0.0055	0.0134	0.0043	0.0043	0.0044	0.0041	0.0130	0.0040	0.0039	0.0105	0.0095	0.0009	0.0011	0.0042	0.0014	0	0.0037	0.0068	0.0064	0.0028	0.0130	0.395	0.10659	T	0.01	0.66756	D	0.995	0.67487	D	0.989	0.78396	D	0.000016	0.62929	D	0.066217	0.999596	0.47742	D	.	.	.	0.04	0.62051	T	-3.58	0.69118	D	0.742	0.77978	-0.7075	0.60075	T	0.266	0.63716	T	10	0.009412646	0.00212	T	.	.	.	0.358	0.67872	.	.	0.613170842667	0.61005	0.4483159718688613	0.44749	.	.	0.560841441154	0.47386	T	0.04599	0.27464	T	-0.260785	0.12808	T	-0.136345	0.60434	T	0.0295759056904568	0.01924	T	0.967303	0.88169	D	0.34607485	0.56759	0.20644149	0.44858	0.30611086	0.53447	0.20644149	0.44857	-13.847	0.92549	D	.	.	0.424	0.60863	A	.;.;.;.;.;.	.;.;.;.;.;.	4.448986	0.69136	25.3	0.96387653285315067	0.29640	0.96891	0.71503	D	AEFI	0.744794	0.68766	D	0.408776063695069	0.61904	4.397973	0.457243474947722	0.65183	4.791782	0.994956101476119	0.33880	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.16	6.16	0.99302	3.832000	0.55485	7.564000	0.60548	0.597000	0.34315	0.996000	0.39380	0.924000	0.28388	0.961000	0.51904	0.0:1.0:0.0:0.0	20.860	0.99763	889	0.27310	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;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;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	.	.	.	.	.	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	0.010070	0.000000	0.008152	0.011696	0.000000	0.008621	0.012195	0.015152	0.05	1078.43	37	chr8	3230165	.	C	G	1078.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.306;DP=410;ExcessHet=0;FS=4.018;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.884;SOR=0.371	GT:AD:DP:GQ:PL	0/1:51,42:93:99:1090,0,1471	9	0	1	0
chr8	7973169	7973169	A	C	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.T85G:p.F29V	.	1206	310	3	3	0	9	0.0143084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0009	0	0.0022	0	0.0090	0	0.0023	3.84e-05	1	26028	rs200849376	0.0048	0.0098	0.0026	0.0069	0.0192	0.0044	0.0043	0.0102	0.0098	0.0001	0.0027	0.0062	0.0033	0.0029	0.0192	0.0112	0.0021	0.0012	0	0.0010	0	0	.	0	0	.	.	0	.	0	0	0	0	0	0	0	0	.	.	.	0.521	0.10429	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	0.14455	N	.	.	.	.	.	.	0.067	0.03956	.	.	.	.	.	.	.	0.006848842	0.00156	T	.	.	.	.	.	.	.	0.173771789658	0.16945	0.05122364867799584	0.05064	.	.	0.517447173595	0.41267	T	0.003077	0.02473	T	-0.471819	0.00828	T	-0.469526	0.25567	T	.	.	.	0.677032	0.28590	T	0.11148907	0.26346	0.20951682	0.45299	0.11148907	0.26346	0.20951682	0.45298	-2.322	0.04677	T	.	.	0.082	0.08948	B	.	.	0.443033	0.08133	4.862	0.16805105425743158	0.00465	0.00150	0.00907	N	AEFI	.	.	.	.	.	.	.	.	.	1.42799992388748E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443366	0.03230	0.45	-0.9	0.10008	-0.402000	0.07284	-0.250000	0.10515	-0.754000	0.03558	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	.	.	.	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	.	.	.	.	.	.	.	.	0.6667	134.13	.	chr8	7973169	.	A	C	134.13	.	AC=4;AF=0.667;AN=6;DP=7;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.833;MQ=42.05;QD=33.53;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:7973169_A_C:90,6,0:7973169	1	2	0	7
chr8	7973183	7973183	C	T	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.G71A:p.R24Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199970737	2.505e-05	6.653e-05	3.403e-05	1.794e-05	4.107e-05	9.33e-06	6.32e-06	1.359e-05	7.46e-06	3.626e-05	0	0	0	0	0	4.107e-05	0	0	0	0.0001	0	0	.	0	0	.	.	0	.	0	0	0	0	0	0	0	0	.	.	.	0.489	0.11586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.086	0.06322	.	.	.	.	.	.	.	0.079891175	0.12903	T	.	.	.	.	.	.	.	0.0884992946249	0.08302	0.061290013221019346	0.06069	.	.	0.446997404099	0.31534	T	0.007284	0.06695	T	-0.188493	0.22479	T	-0.508533	0.21466	T	.	.	.	0.754325	0.37688	T	0.10293352	0.24325	0.1386967	0.33115	0.10293352	0.24325	0.1386967	0.33115	-3.232	0.12876	T	.	.	0.078	0.07036	B	.	.	0.775522	0.11457	8.061	0.61939622589647725	0.06835	0.00666	0.02877	N	AEFI	.	.	.	.	.	.	.	.	.	1.12190637154212E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443366	0.03230	0.45	0.45	0.15835	-0.223000	0.09182	-5.981000	0.01533	0.270000	0.18506	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	.	.	.	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	.	.	.	.	.	.	.	.	0.25	81.37	.	chr8	7973183	.	C	T	81.37	.	AC=2;AF=0.25;AN=8;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=44;QD=29.74;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:7973169_A_C:90,6,0:7973169	3	1	0	6
chr8	8376610	8376610	C	T	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon3:c.G1799A:p.R600Q,PRAG1:NM_001369759:exon3:c.G1799A:p.R600Q	.	416	1096	9	1	0	11	0.00499319	.	.	.	3378792	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00942722869921	0.0006	0.000199681	0.0005	0.0003	0.0007	0	0	0.0006	0.0024	0.0002	0.0004398	68	154602	rs199706360	0.0004	0.0004	0.0004	0.0004	0.0241	0.0004	0.0004	0.0208	0.0196	0.0004	0.0007	0.0006	2.529e-05	3.812e-05	0.0241	0.0003	0.0010	0.0005	0.0006	0.0006	0.0007	0.0005	0.0014	0.0005	0.0005	0.0007	0.0006	0.0002	0	0.0011	0.0014	0	0	0.0204	0.0006	0.0028	0.0014	.	.	.	0.484	0.11760	T	.	.	.	.	.	.	0.588319	0.11074	N	0.790413	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.077	0.07262	-1.0387	0.17709	T	0.076	0.30584	T	10	0.0119178295	0.00258	T	0.009427	0.24716	T	.	.	.	.	0.0482279557977	0.04254	0.15685933987224282	0.15606	.	.	0.234855204821	0.02346	T	0.007386	0.06799	T	-0.52721	0.00399	T	-0.618023	0.11340	T	0.0101889614287345	0.00138	T	0.687731	0.29668	T	0.0672992	0.14560	0.03747112	0.03407	0.0672992	0.14560	0.03747112	0.03407	-3.551	0.17153	T	.	.	0.075	0.05317	B	.;.	.;.	0.498558	0.08677	5.448	0.97472187580351977	0.34141	0.11273	0.16524	N	AEFDBHCI	0.042692	0.06656	N	-0.973298334379685	0.09177	0.4332447	-0.978407885282487	0.10270	0.516215	0.999998972464268	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.04	0.946	0.18674	0.056000	0.14136	-2.838000	0.03310	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.0:0.3171:0.1847:0.4982	4.117	0.09555	925	0.17918	.;.	.	.	.	.	.	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	0.013595	0.000000	0.017663	0.023392	0.050000	0.025862	0.000000	0.011364	0.05	1350.43	88	chr8	8376610	.	C	T	1350.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.53;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=1.95;SOR=0.747	GT:AD:DP:GQ:PL	0/1:45,51:96:99:1362,0,1031	9	0	1	0
chr8	8377394	8377394	C	T	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon3:c.G1015A:p.D339N,PRAG1:NM_001369759:exon3:c.G1015A:p.D339N	.	399	1116	6	1	0	8	0.00357143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0125104443522	0.0059	0.00199681	0.0055	0.0018	0.0021	0.0001	0.0089	0.0074	0.0045	0.0036	0.0048447	749	154602	rs201521501	0.0078	0.0078	0.0080	0.0077	0.0089	0.0077	0.0077	0.0087	0.0087	0.0011	0.0022	0.0097	5.057e-05	0.0087	0.0021	0.0089	0.0071	0.0028	0.0050	0.0050	0.0050	0.0050	0.0075	0.0047	0.0046	0.0070	0.0068	0.0015	0	0.0018	0.0086	0.0002	0.0103	0	0.0075	0.0038	0.0023	.	.	.	0.706	0.05602	T	0.999	0.77913	D	0.954	0.69447	D	0.001437	0.39044	N	0.165039	0.879059	0.35713	D	.	.	.	.	.	.	.	.	.	0.496	0.52918	-0.5453	0.66963	T	0.227	0.59233	T	10	0.0080578625	0.00183	T	0.01251	0.31146	T	.	.	.	.	0.152612264143	0.14878	0.20885933061810766	0.20801	.	.	0.431771397591	0.29450	T	0.025059	0.18811	T	-0.555119	0.00272	T	-0.559135	0.16459	T	0.0221336370457887	0.00924	T	0.79802	0.44234	T	0.06739918	0.14591	0.07839511	0.17554	0.06739918	0.14591	0.07839511	0.17553	-5.935	0.45733	T	.	.	0.213	0.44148	B	.;.	.;.	3.122175	0.42153	21.5	0.99867904873152369	0.94547	0.41551	0.26682	N	AEFDBCI	0.078404	0.15817	N	-0.00191428558426515	0.41769	2.504362	-0.141461961682113	0.33739	1.933098	0.999999998656664	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.491896	0.07777	0	.	.	4.34	4.34	0.51267	1.059000	0.30127	4.713000	0.44466	0.598000	0.34611	0.306000	0.25378	0.999000	0.35428	0.004000	0.06068	0.0:1.0:0.0:0.0	15.177	0.72607	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001521	0.000000	0.000000	0.002924	0.000000	0.000000	0.006250	0.003788	0.05	1667.43	45	chr8	8377394	.	C	T	1667.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.129;DP=546;ExcessHet=0;FS=3.203;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.225;SOR=0.682	GT:AD:DP:GQ:PL	0/1:59,68:127:99:1679,0,1361	9	0	1	0
chr8	8377787	8377787	G	A	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon3:c.C622T:p.R208C,PRAG1:NM_001369759:exon3:c.C622T:p.R208C	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.00618618656676	0.0047	0.000998403	0.0035	0.0012	0.0010	0	0.0076	0.0050	0.0033	0.0005	0.0037063	573	154602	rs180898867	0.0054	0.0054	0.0056	0.0053	0.0061	0.0053	0.0053	0.0060	0.0059	0.0007	0.0015	0.0097	2.519e-05	0.0081	0.0009	0.0061	0.0052	0.0005	0.0039	0.0039	0.0037	0.0041	0.0055	0.0036	0.0035	0.0051	0.0049	0.0011	0	0.0014	0.0086	0.0002	0.0101	0	0.0055	0.0038	0.0004	.	.	.	0.029	0.54541	D	0.146	0.27821	B	0.024	0.20255	B	0.083870	0.20729	N	0.321541	0.980191	0.39641	D	.	.	.	.	.	.	.	.	.	0.343	0.39457	-0.9817	0.34608	T	0.077	0.30767	T	10	0.0064563453	0.00146	T	0.006186	0.16200	T	.	.	.	.	0.307332253619	0.30352	0.1319628656894759	0.13121	.	.	0.257686942816	0.04620	T	0.022785	0.17508	T	-0.167648	0.25590	T	-0.00662597	0.69905	D	0.016472565910182	0.00412	T	0.869413	0.57379	D	0.08104805	0.18604	0.060116924	0.11395	0.08104805	0.18603	0.060116924	0.11395	-5.508	0.41942	T	.	.	0.135	0.29394	B	.;.	.;.	4.243043	0.64342	24.7	0.99872106881281586	0.94989	0.73101	0.35762	D	AEFDBCI	0.241724	0.36329	N	-0.171502809079798	0.34324	1.957826	-0.0401645495545533	0.37920	2.226788	0.99961848429464	0.40981	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.2	3.25	0.36363	3.243000	0.51090	5.698000	0.49367	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.479000	0.28543	0.0968:0.0:0.5363:0.3669	5.315	0.15160	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002924	0.000000	0.000000	0.006098	0.003788	0.05	2282.43	45	chr8	8377787	.	G	A	2282.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.77;DP=595;ExcessHet=0;FS=1.865;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-1.811;SOR=0.56	GT:AD:DP:GQ:PL	0/1:88,90:178:99:2294,0,1942	9	0	1	0
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	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	.	.	.	.	.	.	.	.	0.3571	4086.3	104	chr8	10609944	.	A	G	4086.3	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.723;DP=2045;ExcessHet=2.8389;FS=208.044;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=3.55;ReadPosRankSum=-0.301;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,76:223:99:0|1:10609944_A_G:1540,0,5006:10609944	2	0	5	3
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	7877.1	171	chr8	10609948	.	C	T	7877.1	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.09;DP=2037;ExcessHet=4.5998;FS=302.386;InbreedingCoeff=-0.6667;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=5.66;ReadPosRankSum=1.74;SOR=12.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:153,40:211:99:.:.:1134,0,5074:.	3	0	3	4
chr8	10610125	10610125	-	CCCCTCTAACTGCACCCCCTC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.3972_3973insGAGGGGGTGCAGTTAGAGGGG:p.T1325_G2392delinsEGVQLEGTKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*	Occult macular dystrophy, Autosomal dominant	43	1464	7	0	8	15	0.00238501	.	.	.	4008211	Occult_macular_dystrophy|Retinitis_pigmentosa_88	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MONDO:MONDO:0032940,MedGen:C5394208,OMIM:618826	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs776696463	0.0003	0.0009	0.0003	0.0003	0.0019	0.0003	0.0003	0.0010	0.0008	6.754e-05	0.0002	0.0008	0	0.0005	0.0019	0.0003	0.0004	0.0003	0.0007	0.0018	0.0007	0.0008	0.0011	0.0006	0.0006	0.0009	0.0008	0.0002	0	0.0007	0.0026	0	0.0002	0.0032	0.0011	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1809.39	358	chr8	10610125	.	T	TCCCCTCTAACTGCACCCCCTC	1809.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.765;DP=2822;ExcessHet=0;FS=1.81;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.87;MQRankSum=-7.506;QD=7.6;ReadPosRankSum=2.63;SOR=0.871	GT:AD:DP:GQ:PL	0/1:176,62:240:99:1821,0,7245	9	0	1	0
chr8	10610127	10610127	-	CTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAG:p.E1324_G2392delinsGTKVIEGLQEERVQLEETKTEEGLQETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.992e-05	0.0001	0.0001	4.162e-05	0.0001	0	0	8.955e-05	0	0.0001	8.427e-05	0	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	8.518e-05	0.0002	0.0001	7.709e-05	0	7.924e-05	0	0	0	0	0.0003	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	87613.7	417	chr8	10610127	.	T	TCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	87613.7	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.026;DP=3602;ExcessHet=0.6204;FS=0;InbreedingCoeff=0.0476;MLEAC=1;MLEAF=0.05;MQ=59.68;MQRankSum=-0.183;QD=29.11;ReadPosRankSum=-3.299;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:155,61:219:99:.:.:6522,0,6862:.	9	0	1	0
chr8	12194020	12194020	C	A	exonic	FAM86B1	.	nonsynonymous SNV	FAM86B1:NM_001083537:exon1:c.G51T:p.E17D	.	.	.	.	.	.	.	.	.	.	.	2681295	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.106840797513	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1480769474	5.125e-05	5.525e-05	4.767e-05	5.49e-05	0.0010	4.133e-05	3.77e-05	0.0004	0.0002	4.398e-05	5.703e-05	0	0	0	0.0010	5.398e-05	3.724e-05	3.924e-05	4.271e-05	4.014e-05	5.576e-05	2.91e-05	9.003e-05	1.833e-05	1.207e-05	3.827e-05	2.618e-05	0	0	0	0	0	0	0	9.003e-05	0	0	0.055	0.48642	T	0.01	0.65728	D	0.745	0.50750	P	0.2	0.45921	B	0.000187	0.00507	U	7739.210000	1	0.81001	D	2.635	0.77114	M	1.83	0.24841	T	-1.61	0.43524	N	0.163	0.26354	-1.0041	0.28725	T	0.083	0.32642	T	10	0.18477651	0.33867	T	0.106841	0.78263	D	0.185	0.45933	0.28	0.23483	0.2338531098	0.23012	0.32896826886501584	0.32809	1.64548930497	0.89442	.	.	.	0.013482	0.11655	T	-0.0331868	0.46952	T	-0.285447	0.46243	T	0.0818992778658867	0.10230	T	0.554844	0.19218	T	0.07789898	0.17707	0.10510897	0.25259	0.07789898	0.17706	0.10510897	0.25259	-7.614	0.58408	D	.	.	0.421	0.61679	A	.;.;.;.;.	.;.;.;.;.	3.422994	0.47542	22.5	0.98588524381714848	0.43336	0.55611	0.29908	D	AEFDGBCI	0.277295	0.39184	N	-0.272265745087701	0.30224	1.683209	-0.429176893705979	0.24145	1.320588	2.27104957243636E-4	0.06048	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	1.72	1.72	0.23498	1.193000	0.31771	4.459000	0.43452	0.268000	0.18485	0.901000	0.31451	1.000000	0.68203	0.080000	0.17246	0.0:1.0:0.0:0.0	7.383	0.26039	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	.	.	.	.	.	.	.	.	0.05	53.94	5	chr8	12194020	.	C	A	53.94	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.96;DP=103;ExcessHet=0;FS=0;InbreedingCoeff=-0.0855;MLEAC=1;MLEAF=0.05;MQ=29.77;MQRankSum=-0.385;QD=5.39;ReadPosRankSum=1.44;SOR=0.446	GT:AD:DP:GQ:PL	0/1:7,3:10:65:65,0,173	9	0	1	0
chr8	13499212	13499212	C	A	exonic	DLC1	.	nonsynonymous SNV	DLC1:NM_001348081:exon2:c.G860T:p.G287V,DLC1:NM_024767:exon2:c.G860T:p.G287V,DLC1:NM_182643:exon2:c.G860T:p.G287V	Colorectal cancer, somatic	421	1098	3	0	0	3	0.00136426	.	.	.	3849488	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.146	0.0220901015091	7.7e-05	.	7.413e-05	0	0	0	0	7.492e-05	0	0.0002	5.82e-05	9	154602	rs35445357	4.173e-05	4.173e-05	3.403e-05	4.95e-05	0.0003	3.31e-05	3.001e-05	8.885e-05	7.053e-05	0	0	0.0010	0	0	0.0003	9.892e-06	0.0002	0.0002	3.944e-05	3.94e-05	3.854e-05	4.037e-05	0.0004	1.716e-05	1.13e-05	7.279e-05	3.025e-05	0	0	0.0001	0.0006	0	0	0	0	0	0.0004	0.259	0.26300	T	0.014	0.92824	D	0.002	0.47557	B	0.005	0.44178	B	0.002592	0.36278	N	0.000000	0.999599	0.47742	D	1.67	0.42885	L	3.47	0.13916	T	-0.39	0.80943	N	0.138	0.22098	-1.0437	0.16207	T	0.025	0.10910	T	10	0.06354615	0.08295	T	0.02209	0.44941	T	0.146	0.38789	.	.	0.707926867699	0.70538	0.08723451821058187	0.08656	0.0254209843735	0.02595	0.33968347311	0.16391	T	0.06115	0.31577	T	-0.210475	0.19313	T	-0.243917	0.50415	T	0.0869187869652326	0.10849	T	0.782522	0.41827	T	0.08228183	0.18948	0.07004658	0.14833	0.08228183	0.18948	0.07004658	0.14833	-3.726	0.19703	T	.	.	0.096	0.32969	B	.;.;.	.;.;.	1.706239	0.21731	15.32	0.99260906011180439	0.57222	0.70775	0.34731	D	AEFDBIJ	0.263239	0.38082	N	-0.0715027840408876	0.38645	2.266658	-0.0232814568880479	0.38666	2.281295	0.999924481479933	0.46280	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.44	3.56	0.39892	1.749000	0.37946	1.599000	0.27573	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.425000	0.27339	0.1533:0.6308:0.1325:0.0834	5.290	0.15030	973	0.05605	.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2157.43	48	chr8	13499212	.	C	A	2157.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.362;DP=590;ExcessHet=0;FS=4.654;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.219;SOR=0.754	GT:AD:DP:GQ:PL	0/1:76,83:159:99:2169,0,1901	9	0	1	0
chr8	17874389	17874389	C	A	exonic	FGL1	.	nonsynonymous SNV	FGL1:NM_004467:exon4:c.G377T:p.R126L,FGL1:NM_147203:exon4:c.G377T:p.R126L,FGL1:NM_201552:exon5:c.G377T:p.R126L,FGL1:NM_201553:exon5:c.G377T:p.R126L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.933	0.348548838683	.	.	2.474e-05	0	0	0.0002	0	1.5e-05	0	0	1.94e-05	3	154602	rs768389622	8.895e-06	8.893e-06	6.807e-06	1.1e-05	0.0005	4.96e-06	3.82e-06	0.0001	7.544e-05	2.988e-05	0	0	7.56e-05	0	0.0005	4.497e-06	0	1.16e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.052921	1	0.81001	D	4.33	0.98384	H	-2.05	0.85799	D	-6.14	0.90140	D	0.974	0.98466	0.979	0.96843	D	0.855	0.95152	D	10	0.97623897	0.97403	D	0.348549	0.92207	D	0.933	0.98452	0.868	0.96212	0.927570053737	0.92683	0.8299121217960965	0.82950	.	.	0.599829792976	0.52880	T	0.268858	0.64101	T	0.28485	0.81728	D	0.397092	0.92018	D	0.99935656785965	0.97079	D	0.993067	0.97771	D	0.90694314	0.92011	0.9095884	0.95659	0.90694314	0.92012	0.9095884	0.95660	-11.92	0.84458	D	.	.	0.934	0.85378	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.916655	0.80938	27.4	0.99882222214314853	0.95813	0.98514	0.83591	D	AEFBI	0.964416	0.98654	D	0.993882067695764	0.95553	13.73111	0.892627745819599	0.95243	13.44072	0.999999999801761	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.11	5.11	0.69188	7.239000	0.77636	5.807000	0.49979	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.968	0.92682	489	0.76795	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular 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	.	.	.	.	.	.	.	.	0.05	843.43	43	chr8	17874389	.	C	A	843.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.12;DP=372;ExcessHet=0;FS=2.827;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.57;ReadPosRankSum=-0.714;SOR=1.362	GT:AD:DP:GQ:PL	0/1:18,30:48:99:855,0,390	9	0	1	0
chr8	17874426	17874426	T	C	exonic	FGL1	.	nonsynonymous SNV	FGL1:NM_004467:exon4:c.A340G:p.M114V,FGL1:NM_147203:exon4:c.A340G:p.M114V,FGL1:NM_201552:exon5:c.A340G:p.M114V,FGL1:NM_201553:exon5:c.A340G:p.M114V	.	429	1060	30	3	0	36	0.0166976	.	.	.	3547046	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.485	.	0.0052	0.00599042	0.0084	0.0007	0.0076	0	0.0060	0.0095	0.0154	0.0144	0.0003842	10	26028	rs35311020	0.0064	0.0065	0.0060	0.0069	0.0310	0.0063	0.0063	0.0273	0.0259	0.0009	0.0053	0.0384	0	0.0047	0.0310	0.0053	0.0088	0.0147	0.0060	0.0060	0.0059	0.0061	0.0159	0.0057	0.0055	0.0131	0.0120	0.0012	0	0.0040	0.0363	0	0.0044	0.0136	0.0077	0.0118	0.0159	0.008	0.58626	D	0.008	0.67890	D	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.071198	0.999992	0.58761	D	2.725	0.79712	M	1.78	0.25678	T	-2.8	0.59226	D	0.891	0.89020	-0.7191	0.59507	T	0.146	0.47021	T	10	0.010201037	0.00228	T	.	.	.	0.485	0.77399	.	.	0.301122078929	0.29733	0.5863605257373335	0.58566	.	.	0.591809689999	0.51749	T	0.027311	0.20030	T	-0.134255	0.30810	T	0.047	0.73366	D	0.0193578184801095	0.00640	T	0.833317	0.50212	T	0.72937727	0.79688	0.7215388	0.83557	0.72937727	0.79690	0.7215388	0.83557	-7.693	0.58959	D	.	.	0.386	0.59749	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.355095	0.66921	25.0	0.99438312256023687	0.64621	0.97972	0.78540	D	AEFBI	0.959981	0.98057	D	0.79914716100608	0.86051	8.763559	0.742853908507329	0.85621	8.635917	0.999999813152066	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.11	5.11	0.69188	7.340000	0.78530	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.0:1.0	15.253	0.73258	489	0.76795	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular 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	0.018127	0.005051	0.014946	0.032164	0.000000	0.008621	0.021341	0.018939	0.05	1081.43	43	chr8	17874426	.	T	C	1081.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.154;DP=391;ExcessHet=0;FS=8.939;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=-0.817;SOR=0.962	GT:AD:DP:GQ:PL	0/1:23,45:68:99:1093,0,469	9	0	1	0
chr8	17939724	17939724	A	G	exonic	PCM1	.	nonsynonymous SNV	PCM1:NM_001352647:exon5:c.A646G:p.I216V,PCM1:NM_001352651:exon5:c.A646G:p.I216V,PCM1:NM_001352652:exon5:c.A646G:p.I216V,PCM1:NM_001315507:exon6:c.A646G:p.I216V,PCM1:NM_001315508:exon6:c.A646G:p.I216V,PCM1:NM_001352632:exon6:c.A646G:p.I216V,PCM1:NM_001352634:exon6:c.A646G:p.I216V,PCM1:NM_001352636:exon6:c.A646G:p.I216V,PCM1:NM_001352637:exon6:c.A646G:p.I216V,PCM1:NM_001352639:exon6:c.A646G:p.I216V,PCM1:NM_001352640:exon6:c.A646G:p.I216V,PCM1:NM_001352641:exon6:c.A646G:p.I216V,PCM1:NM_001352643:exon6:c.A646G:p.I216V,PCM1:NM_001352644:exon6:c.A646G:p.I216V,PCM1:NM_001352646:exon6:c.A646G:p.I216V,PCM1:NM_001352649:exon6:c.A646G:p.I216V,PCM1:NM_001352654:exon6:c.A646G:p.I216V,PCM1:NM_001352658:exon6:c.A646G:p.I216V,PCM1:NM_001352659:exon6:c.A646G:p.I216V,PCM1:NM_006197:exon6:c.A646G:p.I216V,PCM1:NM_001352638:exon7:c.A646G:p.I216V,PCM1:NM_001352655:exon7:c.A646G:p.I216V,PCM1:NM_001352633:exon8:c.A646G:p.I216V,PCM1:NM_001352635:exon8:c.A646G:p.I216V,PCM1:NM_001352642:exon8:c.A646G:p.I216V,PCM1:NM_001352645:exon8:c.A646G:p.I216V,PCM1:NM_001352648:exon8:c.A646G:p.I216V,PCM1:NM_001352650:exon8:c.A646G:p.I216V,PCM1:NM_001352653:exon8:c.A646G:p.I216V,PCM1:NM_001352656:exon8:c.A646G:p.I216V,PCM1:NM_001352657:exon8:c.A646G:p.I216V,PCM1:NM_001352660:exon8:c.A646G:p.I216V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0146067666369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.865e-06	5.472e-06	1.415e-06	4.353e-06	3.16e-05	6.7e-07	4.5e-07	.	.	3.16e-05	0	0	2.683e-05	0	0	9.274e-07	0	1.317e-05	6.573e-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	0.188	0.26852	T	0.064	0.92824	T	0.858	0.47274	P	0.856	0.61001	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	3.31	0.29342	T	-0.51	0.20358	N	0.639	0.65159	-1.0242	0.22344	T	0.118	0.41407	T	10	0.3537261	0.52173	T	0.014607	0.34839	T	0.220	0.51569	0.189	0.09907	0.304760801415	0.30091	0.16954854941018246	0.16874	.	.	0.677305340767	0.63882	T	0.066295	0.32909	T	-0.0362541	0.46503	T	-0.289853	0.45787	T	0.888498902320862	0.53909	D	0.856914	0.69206	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.52467	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.038058	0.59763	24.1	0.99919021385496309	0.98586	0.99534	0.97166	D	AEBI	0.879973	0.80629	D	0.621937673990629	0.74564	6.154138	0.664843842189893	0.79719	7.142443	0.999999999945177	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	9.226000	0.94392	8.001000	0.76151	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.841	0.69858	704	0.57414	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	863.43	33	chr8	17939724	.	A	G	863.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.21;DP=364;ExcessHet=0;FS=2.519;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=1.56;SOR=1.241	GT:AD:DP:GQ:PL	0/1:25,31:56:99:875,0,589	9	0	1	0
chr8	22600944	22600944	C	G	exonic	C8orf58	.	nonsynonymous SNV	C8orf58:NM_001013842:exon2:c.C103G:p.R35G,C8orf58:NM_001198827:exon2:c.C103G:p.R35G,C8orf58:NM_173686:exon2:c.C103G:p.R35G	.	432	1076	14	0	0	14	0.00646353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	.	0.0051	0.00858626	0.0095	0.0012	0.0063	0.0163	0.0271	0.0079	0.0086	0.0135	0.0086286	1334	154602	rs145988500	0.0074	0.0074	0.0073	0.0074	0.0135	0.0073	0.0072	0.0129	0.0126	0.0008	0.0072	0	0.0113	0.0239	0.0031	0.0064	0.0068	0.0135	0.0071	0.0071	0.0057	0.0086	0.0158	0.0068	0.0066	0.0130	0.0120	0.0016	0	0.0088	0.0003	0.0158	0.0269	0.0068	0.0067	0.0047	0.0106	0.004	0.65419	D	0.024	0.56640	D	0.999	0.77913	D	0.929	0.66367	D	0.016670	0.27917	N	0.167110	0.999482	0.21117	N	1.7	0.43825	L	.	.	.	-5.73	0.87611	D	0.565	0.58883	-0.9390	0.42774	T	0.149	0.47505	T	9	0.0077447295	0.00176	T	.	.	.	0.146	0.38789	.	.	0.404592120364	0.40076	0.24309096872699978	0.24223	0.330562522634	0.35134	.	.	.	0.122361	0.44598	T	-0.335924	0.05676	T	-0.242334	0.50570	T	0.0346385653733951	0.02747	T	0.80342	0.45053	T	0.35063452	0.57117	0.46539184	0.68975	0.35063452	0.57117	0.46539184	0.68975	-3.155	0.11939	T	.	.	0.432	0.64192	A	.;.;.;.	.;.;.;.	3.463884	0.48288	22.6	0.99761314465315776	0.85091	0.56439	0.30117	D	AEFDBCI	0.161302	0.28734	N	0.213981236316017	0.51877	3.365623	0.108185616289891	0.44965	2.76835	0.999982709934131	0.51787	0.493124	0.18060	0	0.611049	0.52481	0	0.26897	0.05253	2	0.627883	0.49187	0	.	.	4.63	2.73	0.31266	0.375000	0.20248	1.705000	0.28157	0.589000	0.31548	0.936000	0.32490	0.962000	0.29361	0.941000	0.48210	0.3722:0.6278:0.0:0.0	9.847	0.40203	885	0.28214	.;.;.;.	.	.	.	.	rs145988500	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007056	0.005051	0.001359	0.002941	0.000000	0.000000	0.015337	0.018939	0.05	867.43	42	chr8	22600944	.	C	G	867.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.371;DP=448;ExcessHet=0;FS=0.684;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.83;ReadPosRankSum=1.28;SOR=0.777	GT:AD:DP:GQ:PL	0/1:82,45:127:99:879,0,1980	9	0	1	0
chr8	23258427	23258427	A	G	exonic	CHMP7	.	nonsynonymous SNV	CHMP7:NM_001317899:exon6:c.A608G:p.Y203C,CHMP7:NM_001363183:exon6:c.A938G:p.Y313C,CHMP7:NM_152272:exon7:c.A938G:p.Y313C	.	.	.	.	.	.	.	.	.	.	.	3297150	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.236	0.0365517827049	.	0.000199681	6.602e-05	0	0	0.0005	0	0	0	0.0002	5.82e-05	9	154602	rs558028323	2.941e-05	2.941e-05	2.45e-05	3.438e-05	0.0005	2.216e-05	1.97e-05	0.0003	0.0002	0	0	0	0.0005	0	0	1.079e-05	3.312e-05	0.0001	3.943e-05	3.938e-05	1.286e-05	6.722e-05	0.0008	1.716e-05	1.13e-05	0.0003	0.0002	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0008	0.05	0.39575	D	0.141	0.33442	T	0.992	0.64738	D	0.869	0.61749	P	0.000056	0.53742	N	0.162013	0.97541	0.39187	D	1.79	0.46772	L	-0.59	0.71543	T	-2.11	0.48020	N	0.414	0.45426	-0.3651	0.73111	T	0.346	0.71067	T	10	0.18570796	0.34004	T	0.036552	0.57066	D	0.236	0.53931	0.503	0.59615	0.442880012019	0.43908	0.4891091085395204	0.48830	1.73630748658	0.90807	0.707989931107	0.68302	T	0.435106	0.78196	T	-0.279773	0.10692	T	-0.276618	0.47150	T	0.164180013747288	0.18175	T	0.879412	0.59551	D	0.47498438	0.65595	0.29636368	0.55668	0.47498438	0.65595	0.29636368	0.55667	-7.84	0.59975	D	.	.	0.284	0.51703	B	.;.	.;.	4.097505	0.61070	24.3	0.99688536786157278	0.79775	0.94423	0.61117	D	AEFDBI	0.516345	0.54292	D	0.00142624224743307	0.41920	2.516205	0.108898131755069	0.45001	2.771294	0.976987742189653	0.29777	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	4.73	0.59485	4.804000	0.62246	8.075000	0.76457	-0.211000	0.08354	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.9089:0.0:0.0911:0.0	8.890	0.34587	756	0.51065	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2379.43	37	chr8	23258427	.	A	G	2379.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.127;DP=531;ExcessHet=0;FS=3.954;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.077;SOR=0.937	GT:AD:DP:GQ:PL	0/1:103,102:205:99:2391,0,2453	9	0	1	0
chr8	38428408	38428408	T	G	exonic	FGFR1	.	nonsynonymous SNV	FGFR1:NM_001174066:exon3:c.A119C:p.D40A,FGFR1:NM_001354368:exon3:c.A119C:p.D40A,FGFR1:NM_001354370:exon3:c.A119C:p.D40A,FGFR1:NM_023105:exon3:c.A119C:p.D40A,FGFR1:NM_023106:exon3:c.A119C:p.D40A,FGFR1:NM_001174063:exon4:c.A386C:p.D129A,FGFR1:NM_001174065:exon4:c.A386C:p.D129A,FGFR1:NM_001354367:exon4:c.A386C:p.D129A,FGFR1:NM_001354369:exon4:c.A386C:p.D129A,FGFR1:NM_015850:exon4:c.A386C:p.D129A,FGFR1:NM_023110:exon4:c.A386C:p.D129A,FGFR1:NM_001174064:exon5:c.A362C:p.D121A,FGFR1:NM_001174067:exon5:c.A485C:p.D162A	Encephalocraniocutaneous lipomatosis, Somatic mosaicism;Hartsfield syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 2 with or without anosmia, Autosomal dominant;Jackson-Weiss syndrome, Autosomal dominant;Osteoglophonic dysplasia, Autosomal dominant;Pfeiffer syndrome, Autosomal dominant;Trigonocephaly 1, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	444277	FGFR1-related_disorder|Hypogonadotropic_hypogonadism_2_with_or_without_anosmia|Pfeiffer_syndrome|not_provided	.|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orphanet:710|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.662	0.227418458921	.	.	0.0001	0	0	0	0	4.686e-05	0	0.0008	0.00011	17	154602	rs765615419	5.2e-05	5.199e-05	2.587e-05	7.84e-05	0.0007	4.259e-05	3.889e-05	0.0006	0.0005	0	0	0	0	0	0.0005	5.396e-06	0.0001	0.0007	2.626e-05	2.625e-05	2.57e-05	2.685e-05	0.0004	8.14e-06	5.14e-06	7.296e-05	3.031e-05	0	0	6.537e-05	0	0	0	0	0	0.0005	0.0004	0.001	0.91255	D	0.077	0.74150	T	0.913	0.59353	P	0.702	0.61067	P	0.000000	0.84330	D	0.090906	1	0.81001	D	2.365	0.68172	M	-1.11	0.78082	T	-3.45	0.72353	D	0.753	0.82964	0.068	0.83583	D	0.508	0.81479	D	10	0.526051	0.62915	D	0.227418	0.88090	D	0.662	0.87381	0.569	0.69167	0.887666243209	0.88656	0.6979580144845393	0.69736	0.127986724719	0.14431	0.77654004097	0.78407	T	0.781472	0.94235	D	0.0589838	0.59486	T	0.239145	0.85110	D	0.516986668109894	0.33254	D	0.932007	0.82551	D	0.54339164	0.69586	0.4047027	0.64890	0.55517733	0.70244	0.42836893	0.66553	-7.889	0.62249	D	0.3130129851362753	0.41096	0.279	0.65559	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.751291	0.76717	26.6	0.99522509340392684	0.69346	0.90186	0.51166	D	AEFGBCI	0.757337	0.69632	D	0.433561036809446	0.63277	4.558405	0.503625839791808	0.68234	5.191987	0.999999999199039	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.69	5.69	0.88346	4.949000	0.63298	7.935000	0.75225	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:0.0:1.0	15.120	0.72113	844	0.36711	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.000518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	567.43	34	chr8	38428408	.	T	G	567.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.817;DP=355;ExcessHet=0;FS=1.076;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=0.286;SOR=0.927	GT:AD:DP:GQ:PL	0/1:29,23:52:99:579,0,711	9	0	1	0
chr8	54628507	54628507	A	G	exonic	RP1	.	nonsynonymous SNV	RP1:NM_006269:exon4:c.A4625G:p.Y1542C	Retinitis pigmentosa 1, Autosomal recessive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	3750954	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.242	0.0493612105066	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1281810880	6.158e-06	6.156e-06	5.446e-06	6.877e-06	0.0002	2.9e-06	2.1e-06	1.94e-06	1.28e-06	0	0	0	2.52e-05	0	0.0002	5.396e-06	1.656e-05	0	1.314e-05	1.313e-05	2.57e-05	0	4.824e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.008	0.67890	D	0.105	0.25993	B	0.042	0.24114	B	0.000395	0.44960	D	0.000000	0.750595	0.29642	N	1.87	0.49600	L	-0.36	0.68754	T	-4.16	0.75375	D	0.412	0.45237	-0.8276	0.53454	T	0.198	0.55329	T	10	0.34885108	0.51791	T	0.049361	0.63780	D	0.242	0.54781	0.478	0.55663	0.807200034057	0.80539	0.4263122549564914	0.42548	0.0979035133984	0.11043	0.395508497953	0.24443	T	0.486441	0.81292	T	0.064238	0.60142	T	-0.145503	0.59639	T	0.971434414386749	0.69316	D	0.743726	0.36333	T	0.62569845	0.74068	0.39703125	0.64329	0.62569845	0.74069	0.39703125	0.64329	-3.371	0.14669	T	0.3948275326053707	0.48750	0.110	0.21353	B	.	.	3.203530	0.43573	21.8	0.99676071767669838	0.78912	0.78796	0.38931	D	AEFDBI	0.188347	0.31562	N	-0.23862934907462	0.31560	1.770856	-0.178956991776489	0.32311	1.837037	0.989663350643427	0.31897	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.75	0.489	0.16063	2.874000	0.48181	1.422000	0.26372	0.756000	0.94297	1.000000	0.71638	0.394000	0.24678	0.989000	0.64315	0.6308:0.1235:0.1273:0.1183	2.837	0.05177	795	0.45444	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1471.43	99	chr8	54628507	.	A	G	1471.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.14;DP=719;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.333;SOR=0.631	GT:AD:DP:GQ:PL	0/1:60,60:120:99:1483,0,1401	9	0	1	0
chr8	61665358	61665358	C	T	exonic	ASPH	.	nonsynonymous SNV	ASPH:NM_032467:exon5:c.G526A:p.V176I,ASPH:NM_020164:exon6:c.G571A:p.V191I	Traboulsi syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0064425074672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.588	0.08273	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.57	0.54347	T	-0.23	0.10656	N	0.026	0.01577	-1.0337	0.19268	T	0.077	0.30859	T	8	0.027572304	0.00901	T	0.006443	0.16956	T	0.037	0.09474	0.355	0.35571	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.353548	0.04508	T	-0.745624	0.03659	T	0.0657105011039665	0.08036	T	0.328667	0.06851	T	.	.	.	.	.	.	.	.	-4.137	0.25833	T	.	.	0.064	0.01668	B	.;.	.;.	-0.798591	0.01110	0.050	0.547070304875103	0.05192	0.01380	0.04701	N	AEFGBHCI	0.040630	0.06071	N	-1.51919248489233	0.01723	0.075441	-1.65772242563516	0.01336	0.06031871	0.999999999954531	0.74766	0.562547	0.31514	0	0.588015	0.36545	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	4.3	-8.6	0.00773	-3.076000	0.00678	-4.461000	0.02144	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.913000	0.44837	0.2067:0.6007:0.0:0.1925	9.918	0.40615	409	0.82198	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	37.52	35	chr8	61665358	.	C	T	37.52	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.408;DP=583;ExcessHet=0.2348;FS=145.19;InbreedingCoeff=-0.1055;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=1.96;SOR=7.523	GT:AD:DP:GQ:PL	0/1:70,22:92:44:44,0,1414	8	0	2	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	.	.	.	.	.	.	.	.	0.1667	264.77	48	chr8	66493691	.	G	C	264.77	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-2.1;DP=618;ExcessHet=0.7463;FS=390.645;InbreedingCoeff=-0.2495;MLEAC=3;MLEAF=0.167;MQ=59.65;MQRankSum=0;QD=1.18;ReadPosRankSum=1.92;SOR=9.49	GT:AD:DP:GQ:PL	0/1:51,17:74:18:18,0,909	6	0	3	1
chr8	67299229	67299229	C	T	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon4:c.G439A:p.V147I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.00485664365008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.144	0.33109	T	0.998	0.73220	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999944	0.51968	D	1.42	0.35681	L	1.82	0.25018	T	-0.83	0.22727	N	0.47	0.50598	-1.0588	0.12058	T	0.129	0.43867	T	10	0.44255733	0.58194	T	0.004857	0.12192	T	0.244	0.55061	0.419	0.46036	0.344740032716	0.34089	0.46458263451071363	0.46377	0.432702769526	0.43444	0.796535730362	0.81436	T	0.173112	0.52185	T	-0.0537433	0.43877	T	-0.314975	0.43122	T	0.922568202018738	0.58277	D	0.989121	0.96387	D	0.31868398	0.54528	0.16852483	0.38818	0.31868398	0.54528	0.16852483	0.38817	-7.853	0.60064	D	.	.	0.089	0.12276	B	.	.	4.127652	0.61742	24.4	0.99858364901069363	0.93729	0.99671	0.98530	D	AEFBI	0.844558	0.76151	D	0.691477747293272	0.79072	7.001596	0.703445623715783	0.82640	7.817407	0.999999999999729	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.003	0.92819	440	0.80101	Mon2, dimerisation and cyclophilin-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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1875	89.52	23	chr8	67299229	.	C	T	89.52	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-0.553;DP=150;ExcessHet=0.8432;FS=83.804;InbreedingCoeff=-0.3031;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.99;ReadPosRankSum=0.49;SOR=6.271	GT:AD:DP:GQ:PL	0/1:11,5:16:29:29,0,179	5	0	3	2
chr8	94726334	94726334	C	T	exonic	DPY19L4	.	nonsynonymous SNV	DPY19L4:NM_181787:exon2:c.C20T:p.P7L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	0.0055	0.00599042	0.0017	0.0184	0.0012	0	0	1.516e-05	0.0011	0	0.001533	237	154602	rs138373475	0.0006	0.0006	0.0007	0.0005	0.0224	0.0006	0.0006	0.0210	0.0205	0.0224	0.0011	0	0	0	0.0009	4.514e-06	0.0014	0.0002	0.0056	0.0056	0.0060	0.0051	0.0198	0.0052	0.0051	0.0186	0.0182	0.0198	0	0.0009	0	0	0	0.0034	0	0.0043	0.0002	0.0	0.91255	D	0.068	0.44106	T	0.008	0.14655	B	0.016	0.17743	B	0.977849	0.07821	N	1.009930	0.999987	0.18198	N	0.345	0.11182	N	-0.01	0.62762	T	-0.18	0.32590	N	0.21	0.23380	-0.9997	0.30002	T	0.046	0.19720	T	10	0.0014688671	0.00016	T	.	.	.	0.086	0.25016	.	.	0.344251166708	0.34027	0.35486829341326187	0.35400	0.116386348577	0.13130	0.438483595848	0.30370	T	0.004071	0.03483	T	-0.490868	0.00643	T	-0.462279	0.26352	T	0.0782336133960713	0.09759	T	0.708429	0.31914	T	0.06441633	0.13665	0.07581938	0.16732	0.06441633	0.13665	0.07581938	0.16732	-4.73	0.33765	T	.	.	0.075	0.05535	B	.;.	.;.	3.051788	0.40954	21.3	0.99340394991751402	0.60170	0.29989	0.23966	N	AEFBI	0.145817	0.26912	N	-0.362757390062295	0.26806	1.465845	-0.199680266032773	0.31548	1.786466	0.999999234808958	0.74766	0.732398	0.92422	0	0.659037	0.61890	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.35	5.35	0.76297	3.113000	0.50069	2.701000	0.34161	0.581000	0.30040	0.091000	0.22601	0.760000	0.26617	0.982000	0.59238	0.0:1.0:0.0:0.0	19.038	0.92968	408	0.82256	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003030	0.015306	0.000000	0.008824	0.000000	0.000000	0.000000	0.003788	0.05	607.43	33	chr8	94726334	.	C	T	607.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.303;DP=339;ExcessHet=0;FS=2.557;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=1.67;SOR=0.368	GT:AD:DP:GQ:PL	0/1:22,26:48:99:619,0,529	9	0	1	0
chr8	94765252	94765252	G	C	exonic	DPY19L4	.	nonsynonymous SNV	DPY19L4:NM_181787:exon9:c.G940C:p.A314P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	.	0.0012	0.00299521	0.0004	0.0037	0.0008	0	0	0	0.0011	0	0.0004075	63	154602	rs144794373	0.0002	0.0002	0.0002	0.0002	0.0059	0.0002	0.0002	0.0053	0.0050	0.0059	0.0005	0	0	0	0.0005	9.002e-07	0.0006	0.0001	0.0012	0.0012	0.0012	0.0012	0.0043	0.0011	0.0010	0.0038	0.0036	0.0043	0	0.0003	0	0	0	0	0	0.0019	0.0002	0.026	0.46910	D	0.067	0.44302	T	0.999	0.77913	D	0.972	0.72692	D	0.000949	0.40932	D	0.244295	0.999412	0.46970	D	2.075	0.57047	M	0.48	0.55945	T	-1.18	0.30140	N	0.816	0.81162	-0.6931	0.60763	T	0.131	0.44188	T	10	0.024789244	0.00695	T	.	.	.	0.247	0.55478	.	.	0.564872276104	0.56150	0.7668205267624494	0.76631	0.59136320463	0.54574	0.527613580227	0.42698	T	0.009663	0.08788	T	-0.200627	0.20715	T	-0.0606961	0.66283	T	0.0114857362437122	0.00173	T	0.939806	0.77272	D	0.62430835	0.73994	0.48933357	0.70453	0.62430835	0.73995	0.48933357	0.70453	-6.865	0.53041	T	.	.	0.306	0.53495	B	.	.	4.172623	0.62756	24.5	0.99798435876579039	0.88372	0.95397	0.64560	D	AEFBI	0.761034	0.69887	D	0.609298694539313	0.73762	6.019392	0.597725134196861	0.74777	6.195013	0.98776872104017	0.31338	0.661447	0.50134	0	0.653731	0.59785	0	0.463624	0.06942	0	0.567339	0.31927	0	.	.	5.19	5.19	0.71428	4.050000	0.57117	8.507000	0.77377	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:1.0:0.0	18.714	0.91633	409	0.82198	.	.	.	.	.	.	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	0.008772	0.000000	0.000000	0.000000	0.003788	0.05	580.43	36	chr8	94765252	.	G	C	580.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=361;ExcessHet=0;FS=1.035;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.771;SOR=0.859	GT:AD:DP:GQ:PL	0/1:28,24:52:99:592,0,631	9	0	1	0
chr8	103998243	103998243	G	A	exonic	RIMS2	.	nonsynonymous SNV	RIMS2:NM_001348499:exon15:c.G2479A:p.D827N,RIMS2:NM_001348500:exon15:c.G2479A:p.D827N,RIMS2:NM_001348505:exon15:c.G2620A:p.D874N,RIMS2:NM_001348509:exon15:c.G2479A:p.D827N,RIMS2:NM_014677:exon15:c.G2479A:p.D827N,RIMS2:NM_001348489:exon17:c.G3055A:p.D1019N,RIMS2:NM_001348494:exon17:c.G3196A:p.D1066N,RIMS2:NM_001348486:exon18:c.G3208A:p.D1070N,RIMS2:NM_001348487:exon18:c.G3067A:p.D1023N	.	442	1047	32	1	0	34	0.0159774	.	.	.	2821222	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.031	0.00636569129297	0.0034	0.00199681	0.0043	0.0011	0.0028	0	0.0047	0.0061	0.0067	0.0019	0.0040556	627	154602	rs182266368	0.0040	0.0041	0.0040	0.0041	0.0413	0.0039	0.0039	0.0370	0.0353	0.0015	0.0042	0.0158	0	0.0048	0.0413	0.0038	0.0055	0.0022	0.0035	0.0035	0.0036	0.0033	0.0045	0.0032	0.0031	0.0040	0.0039	0.0009	0	0.0040	0.0159	0	0.0037	0.0238	0.0045	0.0081	0.0010	0.468	0.10588	T	0.528	0.15554	T	0.328	0.33195	B	0.178	0.35748	B	.	.	.	.	1	0.81001	D	.	.	.	2.44	0.15843	T	0.16	0.05217	N	0.536	0.58798	-1.0343	0.19078	T	0.023	0.09604	T	9	0.005559504	0.00123	T	0.006366	0.16725	T	0.031	0.07369	.	.	0.200294437569	0.19612	.	.	.	.	.	.	.	0.059464	0.31122	T	-0.578152	0.00198	T	-0.599246	0.12875	T	0.0145750985717888	0.00299	T	0.913009	0.69301	D	.	.	.	.	.	.	.	.	-4.421	0.29840	T	.	.	0.105	0.29751	B	.;.;.;.	.;.;.;.	3.742474	0.53593	23.4	0.96533118320416411	0.30158	0.92319	0.55438	D	AEFI	0.647054	0.62237	D	-0.0542186269178862	0.39414	2.323939	0.117775738311659	0.45459	2.808616	0.772613454764295	0.23698	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.59	4.59	0.56297	4.990000	0.63609	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.328	0.82823	839	0.37672	.;.;.;.	.	.	.	.	.	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	0.034240	0.020202	0.032609	0.076023	0.000000	0.043103	0.024390	0.011364	0.05	884.43	34	chr8	103998243	.	G	A	884.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.205;DP=427;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=0.177;SOR=0.64	GT:AD:DP:GQ:PL	0/1:67,42:109:99:896,0,1613	9	0	1	0
chr8	109575304	109575304	A	G	exonic	SYBU	.	nonsynonymous SNV	SYBU:NM_001330596:exon5:c.T1204C:p.F402L,SYBU:NM_001363032:exon5:c.T1105C:p.F369L,SYBU:NM_001099746:exon6:c.T1237C:p.F413L,SYBU:NM_001099749:exon6:c.T1237C:p.F413L,SYBU:NM_001099755:exon6:c.T1237C:p.F413L,SYBU:NM_001099756:exon6:c.T1585C:p.F529L,SYBU:NM_001099753:exon7:c.T1591C:p.F531L,SYBU:NM_001099754:exon7:c.T1594C:p.F532L,SYBU:NM_001099743:exon8:c.T1591C:p.F531L,SYBU:NM_001099744:exon8:c.T1594C:p.F532L,SYBU:NM_001099745:exon8:c.T1594C:p.F532L,SYBU:NM_001099747:exon8:c.T1591C:p.F531L,SYBU:NM_001099748:exon8:c.T1594C:p.F532L,SYBU:NM_001099751:exon8:c.T1591C:p.F531L,SYBU:NM_001099752:exon8:c.T1594C:p.F532L,SYBU:NM_001099750:exon9:c.T1594C:p.F532L,SYBU:NM_017786:exon9:c.T1591C:p.F531L	.	427	1092	3	0	0	3	0.00137174	.	.	.	2431284	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.00782353984012	8.2e-05	0.000199681	5.8e-05	0.0001	0	0	0	7.498e-05	0	6.058e-05	6.47e-05	10	154602	rs374542726	5.814e-05	5.814e-05	5.717e-05	5.913e-05	0.0002	4.809e-05	4.431e-05	5.073e-05	4.653e-05	2.987e-05	8.944e-05	0	0	0	0.0002	6.295e-05	0.0001	1.159e-05	5.253e-05	5.25e-05	6.425e-05	4.028e-05	0.0002	2.556e-05	1.829e-05	5.281e-05	2.834e-05	0	0	0.0002	0	0	0	0	7.351e-05	0	0	0.571	0.07354	T	0.693	0.07394	T	0.048	0.32229	B	0.041	0.28749	B	0.972239	0.07786	N	1.010050	0.999991	0.18878	N	2.735	0.79925	M	.	.	.	-0.51	0.16187	N	0.072	0.11626	-1.0088	0.27292	T	0.093	0.35390	T	9	0.02880916	0.01010	T	0.007824	0.20747	T	0.063	0.18251	0.141	0.04462	0.0611884634855	0.05136	0.24131931137226073	0.24045	0.307647039779	0.33060	0.374204337597	0.21433	T	0.011315	0.11328	T	-0.390525	0.02669	T	-0.56207	0.16183	T	0.0476830358298754	0.05087	T	0.691931	0.30130	T	0.09287849	0.21800	0.10168998	0.24351	0.09287849	0.21800	0.10168998	0.24350	-1.828	0.02594	T	.	.	0.596	0.68706	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.230291	0.16252	12.42	0.37815354561020859	0.02514	0.40395	0.26427	N	AEFBI	0.275318	0.39030	N	-0.657595871826762	0.17239	0.8854086	-0.613663863055133	0.19142	1.025736	0.991651154979712	0.32563	0.608746	0.35421	0	0.627608	0.54475	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.97	4.78	0.60666	1.695000	0.37381	3.843000	0.40051	0.756000	0.94297	0.052000	0.21487	1.000000	0.68203	0.166000	0.20848	0.8544:0.0:0.0:0.1456	10.404	0.43428	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1685.43	36	chr8	109575304	.	A	G	1685.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.182;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=1.08;SOR=0.694	GT:AD:DP:GQ:PL	0/1:69,67:136:99:1697,0,1705	9	0	1	0
chr8	112829734	112829734	G	A	exonic	CSMD3	.	nonsynonymous SNV	CSMD3:NM_001363185:exon10:c.C1421T:p.T474I,CSMD3:NM_052900:exon11:c.C1499T:p.T500I,CSMD3:NM_198123:exon12:c.C1811T:p.T604I,CSMD3:NM_198124:exon13:c.C1691T:p.T564I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	0.0369475490828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.72154	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.92359	D	0.000002	0.62929	D	0.000000	0.999991	0.58761	D	1.805	0.47535	L	2.24	0.17923	T	-4.13	0.75139	D	0.93	0.95956	-0.9869	0.33371	T	0.128	0.43585	T	10	0.8643214	0.85667	D	0.036948	0.57311	D	0.333	0.65522	0.608	0.74063	0.408543089712	0.40467	0.590201377417426	0.58950	0.697281818205	0.60892	0.798365235329	0.81713	T	0.144797	0.48160	T	0.0371681	0.56674	T	-0.184387	0.56115	T	0.995940685272217	0.88365	D	0.887511	0.61533	D	0.4791841	0.65850	0.39927742	0.64495	0.4791841	0.65851	0.39927742	0.64495	-9.199	0.72322	D	.	.	0.410	0.60155	A	.;.;.	.;.;.	4.959062	0.81980	27.7	0.99905313291778353	0.97576	0.98747	0.86334	D	AEFI	0.901888	0.84912	D	0.836134594411344	0.88305	9.528683	0.790171330204769	0.89101	9.839022	0.999999658566125	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.04	5.04	0.67293	10.003000	0.99689	11.656000	0.93934	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	17.147	0.86648	705	0.57330	.;CUB domain|CUB domain|CUB domain|CUB 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	.	.	.	.	.	.	.	.	0.05	1748.43	35	chr8	112829734	.	G	A	1748.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.681;DP=448;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=1.5;SOR=0.73	GT:AD:DP:GQ:PL	0/1:69,77:146:99:1760,0,1476	9	0	1	0
chr8	123082758	123082758	G	A	exonic	TBC1D31	.	nonsynonymous SNV	TBC1D31:NM_001145088:exon3:c.G281A:p.R94H,TBC1D31:NM_001363148:exon3:c.G281A:p.R94H,TBC1D31:NM_001363149:exon3:c.G251A:p.R84H,TBC1D31:NM_001363150:exon3:c.G281A:p.R94H,TBC1D31:NM_001363151:exon3:c.G281A:p.R94H,TBC1D31:NM_001363153:exon3:c.G281A:p.R94H,TBC1D31:NM_145647:exon3:c.G281A:p.R94H	.	437	1077	7	1	0	9	0.00416089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.015577422867	0.0015	0.00239617	0.0024	0.0008	0.0013	0	0.0062	0.0031	0	0.0014	0.0023868	369	154602	rs117552523	0.0027	0.0027	0.0027	0.0028	0.0064	0.0026	0.0026	0.0048	0.0042	0.0005	0.0019	0.0001	0	0.0066	0.0064	0.0029	0.0024	0.0011	0.0025	0.0025	0.0022	0.0028	0.0033	0.0023	0.0022	0.0030	0.0028	0.0008	0	0.0025	0.0009	0	0.0062	0.0068	0.0033	0.0038	0.0008	0.194	0.24277	T	0.304	0.22561	T	0.015	0.17086	B	0.004	0.10090	B	0.022274	0.26667	N	0.446219	0.898412	0.36113	D	1.355	0.33814	L	-0.28	0.70480	T	-1.8	0.47344	N	0.205	0.26717	-0.9579	0.39571	T	0.145	0.46895	T	10	0.008959055	0.00203	T	0.015577	0.36391	T	0.082	0.23913	.	.	0.312608672186	0.30878	0.2283801300167431	0.22753	0.0879987765366	0.09938	0.233587712049	0.02244	T	0.006688	0.22922	T	-0.400581	0.02295	T	-0.351862	0.38993	T	0.00803027947544966	0.00095	T	0.876412	0.58869	D	0.049620923	0.08839	0.04609817	0.06349	0.049620923	0.08839	0.04609817	0.06348	-5.036	0.40121	T	.	.	0.072	0.11941	B	.;.;.	.;.;.	1.500614	0.19289	14.19	0.93647671757815787	0.23529	0.25624	0.22754	N	AEFGBI	0.099915	0.20102	N	-0.884225885550762	0.11217	0.5401324	-0.845670000829821	0.13391	0.6944632	0.417341655625476	0.20262	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.669	0.65921	0	.	.	5.7	-2.69	0.05668	0.961000	0.28864	0.182000	0.15643	-0.162000	0.11565	0.444000	0.26519	0.001000	0.17328	0.997000	0.79791	0.5206:0.0:0.4794:0.0	13.156	0.58940	936	0.14734	.;.;.	.	.	.	.	.	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	0.006042	0.005051	0.004076	0.005848	0.000000	0.008621	0.018293	0.000000	0.1	1735.14	34	chr8	123082758	.	G	A	1735.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.69;DP=413;ExcessHet=0.2348;FS=1.36;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.195;SOR=0.869	GT:AD:DP:GQ:PL	0/1:35,43:78:99:1037,0,741	8	0	2	0
chr8	133459792	133459792	T	C	exonic	ST3GAL1	.	nonsynonymous SNV	ST3GAL1:NM_003033:exon9:c.A995G:p.N332S,ST3GAL1:NM_173344:exon10:c.A995G:p.N332S	.	428	1077	17	0	0	17	0.00783049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0069774542232	0.0010	0.00119808	0.0009	0.0004	0.0004	0	0	0.0013	0.0022	0.0005	0.0009638	149	154602	rs149294559	0.0014	0.0014	0.0014	0.0014	0.0115	0.0013	0.0013	0.0092	0.0084	0.0009	0.0007	0.0003	0	7.49e-05	0.0115	0.0016	0.0021	0.0005	0.0011	0.0011	0.0012	0.0010	0.0018	0.0010	0.0009	0.0015	0.0015	0.0005	0	0.0011	0.0003	0.0002	0	0.0102	0.0018	0.0019	0.0002	0.531	0.07002	T	0.254	0.23433	T	0.005	0.12996	B	0.003	0.08700	B	0.093120	0.20240	N	0.587194	0.839176	0.35039	D	1.435	0.35949	L	1.58	0.29085	T	-0.78	0.21644	N	0.092	0.07535	-1.0336	0.19300	T	0.069	0.28080	T	10	0.011877924	0.00258	T	0.006977	0.18485	T	0.082	0.23913	.	.	0.134007934775	0.12933	0.34420148422556923	0.34334	.	.	0.286849409342	0.08466	T	0.111602	0.42722	T	-0.60579	0.00134	T	-0.647879	0.09103	T	0.0122269385190247	0.00197	T	0.786621	0.42528	T	0.053305667	0.10068	0.05659481	0.10141	0.053305667	0.10068	0.05659481	0.10140	-4.103	0.25335	T	.	.	0.073	0.04847	B	.;.;.;.	.;.;.;.	1.809156	0.22993	15.84	0.9340004977887143	0.23157	0.90599	0.51909	D	AEGBI	0.250309	0.37038	N	-0.159375426261962	0.34838	1.993595	0.00984891361497564	0.40171	2.393185	0.99999989194453	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.13	5.13	0.69729	0.885000	0.27865	0.457000	0.18579	0.665000	0.62972	0.531000	0.27197	0.212000	0.23650	0.998000	0.85391	0.0:0.0:0.0:1.0	14.401	0.66616	928	0.17405	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.014946	0.008772	0.000000	0.000000	0.006098	0.000000	0.05	2555.43	33	chr8	133459792	.	T	C	2555.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.152;DP=569;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.28;SOR=0.701	GT:AD:DP:GQ:PL	0/1:97,109:206:99:2567,0,2231	9	0	1	0
chr8	143720714	143720714	C	T	exonic	MAPK15	.	nonsynonymous SNV	MAPK15:NM_139021:exon9:c.C791T:p.T264M	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	.	0.0004	0.00579073	0.0057	0.0004	0.0424	0.0142	0.0103	0.0009	0.0016	0.0009	0.0041138	636	154602	rs146609910	0.0017	0.0017	0.0019	0.0016	0.0250	0.0016	0.0016	0.0238	0.0233	0.0005	0.0250	0.0004	0.0160	0.0066	0.0012	0.0002	0.0012	0.0003	0.0024	0.0024	0.0021	0.0026	0.0131	0.0022	0.0021	0.0106	0.0097	0.0006	0	0.0094	0.0006	0.0131	0.0085	0	0.0004	0.0005	0	0.232	0.18184	T	0.252	0.23570	T	0.968	0.56581	D	0.827	0.59428	P	0.003222	0.35241	N	0.273852	1	0.08975	N	1.645	0.42016	L	0.92	0.44461	T	-3.04	0.62863	D	0.267	0.30233	-1.0188	0.24106	T	0.064	0.26385	T	10	0.006958276	0.00158	T	.	.	.	0.093	0.26882	.	.	0.630531396591	0.62751	0.4058061931261441	0.40496	0.146378424685	0.16520	0.515318334103	0.40968	T	0.09621	0.39779	T	-0.609485	0.00128	T	-0.627988	0.10568	T	0.0446910830741326	0.04546	T	.	.	.	0.033374816	0.03544	0.05719384	0.10352	0.033374816	0.03543	0.05719384	0.10352	-9.074	0.68172	D	.	.	0.093	0.14201	B	.	.	2.404202	0.30891	18.58	0.99378876076603795	0.61803	0.60511	0.31216	D	AEFDGBCI	0.106464	0.21241	N	-0.387458348644193	0.25914	1.410391	-0.586124975877535	0.19854	1.067125	0.999989639172983	0.51787	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	3.77	-0.642	0.10909	0.909000	0.28180	.	.	-0.960000	0.01985	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.1688:0.469:0.1645:0.1977	1.510	0.02344	895	0.25842	Protein kinase domain|Protein kinase 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	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1	3554.14	33	chr8	143720714	.	C	T	3554.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.43;DP=586;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=1.38;SOR=0.688	GT:AD:DP:GQ:PL	0/1:67,74:141:99:1745,0,1487	8	0	2	0
chr8	143872595	143872595	C	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G659A:p.R220H	.	9	1503	10	0	0	10	0.00331565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0173899213941	0.0002	0.000199681	0.0003	0	0.0002	0	0	0.0004	0	0.0005	0.0002717	42	154602	rs200639583	0.0004	0.0004	0.0003	0.0004	0.0019	0.0004	0.0003	0.0011	0.0008	8.964e-05	0.0001	0	2.521e-05	5.947e-05	0.0019	0.0004	0.0004	0.0007	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	7.214e-05	0	6.53e-05	0	0.0002	9.409e-05	0	0.0004	0.0005	0.0010	.	.	.	0.172	0.30339	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.695	0.17993	N	.	.	.	.	.	.	0.084	0.07262	-0.9614	0.38916	T	0.082	0.32178	T	9	0.020181328	0.00461	T	0.01739	0.39069	T	.	.	.	.	0.223847106136	0.22009	0.3200289533245384	0.31915	.	.	0.320281237364	0.13464	T	0.063482	0.32186	T	-0.547072	0.00304	T	-0.666123	0.07859	T	0.0127068060179515	0.00214	T	0.512749	0.16428	T	0.021439288	0.00746	0.023155311	0.00331	0.021439288	0.00746	0.023155311	0.00331	-6.008	0.46347	T	.	.	0.1	0.17146	B	.;.	.;.	-0.459624	0.02000	0.177	0.90786543797431174	0.20035	0.01608	0.05209	N	AEFDBCI	0.035299	0.04519	N	-1.40890633327884	0.02560	0.1131995	-1.61574395645006	0.01562	0.0708171	0.999999995869454	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.14	-8.27	0.00892	-1.576000	0.02233	.	.	-0.207000	0.08511	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1957:0.1941:0.3928:0.2174	1.963	0.03185	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	0	0	0	1	0	0	0	0.000506	0.000000	0.001359	0.000000	0.000000	0.000000	0.003086	0.000000	0.1	2935.14	59	chr8	143872595	.	C	T	2935.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.41;DP=685;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.748;SOR=0.717	GT:AD:DP:GQ:PL	0/1:72,63:135:99:1611,0,1609	8	0	2	0
chr8	144099806	144099806	C	T	exonic	SHARPIN	.	nonsynonymous SNV	SHARPIN:NM_030974:exon4:c.G556A:p.G186R	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	0.268167489063	.	.	7.577e-05	0	0	0.0008	0	1.53e-05	0	6.073e-05	5.82e-05	9	154602	rs572750141	3.286e-05	3.283e-05	2.998e-05	3.578e-05	0.0008	2.545e-05	2.251e-05	0.0005	0.0005	0	0	0	0.0008	0	0.0002	8.993e-06	4.968e-05	4.637e-05	4.596e-05	4.593e-05	5.139e-05	4.029e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0003	0	0	0	0	0.0012	0	0	1.47e-05	0	0	0.026	0.46910	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.87	0.83286	M	-1.05	0.76690	T	-6.93	0.93404	D	0.955	0.96416	0.308	0.87692	D	0.612	0.86288	D	10	0.9588279	0.95270	D	0.268167	0.89774	D	0.724	0.90280	0.505	0.59924	0.79976659509	0.79789	0.7707743973223821	0.77026	0.73476935275	0.62922	0.509386897087	0.40136	T	0.671219	0.90243	D	0.0996324	0.64253	D	0.261716	0.86175	D	0.684639122625878	0.40001	D	0.865513	0.56452	D	0.5976972	0.72567	0.42783794	0.66516	0.5976972	0.72568	0.42783794	0.66517	-8.677	0.65596	D	.	.	0.515	0.65256	A	.	.	4.887360	0.80212	27.3	0.99922148766350494	0.98852	0.97887	0.77878	D	AEFDBCI	0.764992	0.70162	D	0.616049867820716	0.74188	6.090603	0.527156069712109	0.69826	5.415772	0.999999999993171	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.25	4.25	0.49658	3.573000	0.53600	7.561000	0.60481	0.599000	0.40250	0.294000	0.25270	1.000000	0.68203	0.895000	0.43227	0.0:1.0:0.0:0.0	14.19	0.65173	970	0.06235	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	709.43	42	chr8	144099806	.	C	T	709.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.481;DP=411;ExcessHet=0;FS=0.856;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=-0.647;SOR=0.811	GT:AD:DP:GQ:PL	0/1:55,33:88:99:721,0,1459	9	0	1	0
chr8	144264550	144264550	G	A	exonic	BOP1	.	nonsynonymous SNV	BOP1:NM_015201:exon6:c.C730T:p.R244C	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.173160585058	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1038755860	0.0007	0.0007	0.0008	0.0007	0.0245	0.0007	0.0007	0.0232	0.0227	0	0.0001	0	0.0245	0	0	3.69e-05	0.0004	0.0002	0.0006	0.0006	0.0006	0.0007	0.0176	0.0005	0.0005	0.0146	0.0136	2.408e-05	0	0.0001	0	0.0176	0	0	1.47e-05	0	0.0002	0.003	0.78490	D	0.002	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	.	.	.	.	.	.	0.6	0.53731	T	-7.6	0.95336	D	0.555	0.58031	-0.4101	0.71707	T	0.211	0.57081	T	6	0.17943081	0.33076	T	0.292348	0.90607	D	.	.	.	.	0.631295417935	0.62827	0.5577151766136547	0.55698	.	.	0.884834170341	0.94602	D	0.594635	0.86920	D	0.0796289	0.61998	D	-0.123395	0.61524	T	0.999435722827911	0.97390	D	.	.	.	0.82118064	0.85300	0.63739085	0.78825	0.82118064	0.85301	0.63739085	0.78826	-12.775	0.88414	D	.	.	0.468	0.63085	A	.;.	.;.	5.913737	0.94044	33	0.99930112038364494	0.99334	0.92668	0.56256	D	AEFGI	0.763913	0.70086	D	0.234543737399796	0.52878	3.460	0.243472012857623	0.52278	3.403794	0.994804094855626	0.33809	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.26	3.26	0.36471	2.817000	0.47733	11.624000	0.93645	0.662000	0.56354	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	12.409	0.54789	946	0.12043	BOP1, N-terminal domain|BOP1, N-terminal domain;BOP1, N-terminal domain|BOP1, 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	.	.	.	.	.	.	.	.	0.05	1907.43	33	chr8	144264550	.	G	A	1907.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.32;DP=484;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.171;SOR=0.807	GT:AD:DP:GQ:PL	0/1:74,74:148:99:1919,0,1663	9	0	1	0
chr8	144512897	144512897	C	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon15:c.G2705A:p.R902Q	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	138881	Baller-Gerold_syndrome|not_provided|not_specified	MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.0649140824228	0.0002	0.000399361	0.0001	0.0005	0	0.0003	0.0004	3.559e-05	0	9.936e-05	7.76e-05	12	154602	rs372205013	2.503e-05	3.078e-05	2.207e-05	2.803e-05	0.0002	1.832e-05	1.626e-05	5.91e-05	4.17e-05	0.0002	0.0001	0	5.181e-05	0	0.0002	1.272e-05	0	0.0001	0.0001	0.0001	0.0001	0.0002	0.0004	9.734e-05	8.25e-05	0.0003	0.0002	0.0004	0	0.0001	0	0	0	0	2.939e-05	0	0.0002	.	.	.	0.109	0.37449	T	0.905	0.49920	P	0.368	0.43478	B	.	.	.	.	.	.	.	2.79	0.81396	M	.	.	.	.	.	.	0.478	0.51315	.	.	.	.	.	.	.	0.19498599	0.35332	T	0.064914	0.69421	D	.	.	.	.	0.753342104082	0.75110	0.4951499380592641	0.49435	.	.	0.406314849854	0.25946	T	0.028988	0.33064	T	-0.134618	0.30750	T	-0.136311	0.60437	T	.	.	.	0.930507	0.74278	D	0.065425344	0.13980	0.12046909	0.29072	0.065425344	0.13979	0.12046909	0.29071	-4.15	0.26024	T	0.3427440927790864	0.44040	0.103	0.18456	B	.;.	.;.	3.331313	0.45857	22.2	0.81398510251505096	0.13666	0.95677	0.65689	D	AEFGBCI	0.699757	0.65700	D	.	.	.	.	.	.	0.999999999627051	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.375513	0.06772	0	.	.	4.93	4.03	0.46115	2.812000	0.47693	2.769000	0.34658	-0.136000	0.12710	0.031000	0.20493	0.993000	0.31925	0.007000	0.07825	0.1874:0.8126:0.0:0.0	12.123	0.53201	900	0.24599	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2422.43	63	chr8	144512897	.	C	T	2422.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.14;DP=750;ExcessHet=0;FS=3.318;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.223;SOR=0.616	GT:AD:DP:GQ:PL	0/1:94,93:187:99:2434,0,2202	9	0	1	0
chr9	406999	406999	C	T	exonic	DOCK8	.	nonsynonymous SNV	DOCK8:NM_001190458:exon26:c.C3160T:p.R1054C,DOCK8:NM_001193536:exon27:c.C3256T:p.R1086C,DOCK8:NM_203447:exon28:c.C3460T:p.R1154C	Hyper-IgE recurrent infection syndrome, autosomal recessive, Autosomal recessive	0	1486	35	1	0	37	0.0122964	.	.	.	407710	not_provided|Combined_immunodeficiency_due_to_DOCK8_deficiency|.|not_specified|DOCK8-related_disorder	MedGen:C3661900|MONDO:MONDO:0009478,MedGen:C4722305,OMIM:243700,Orphanet:217390|.|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.288	0.016795402292	0.0015	0.00239617	0.0026	0.0002	0.0021	0.0001	0.0008	0.0025	0.0022	0.0068	0.0023932	370	154602	rs34390308	0.0019	0.0019	0.0016	0.0021	0.0085	0.0018	0.0018	0.0066	0.0063	0.0002	0.0015	0.0249	0	0.0011	0.0085	0.0010	0.0029	0.0069	0.0019	0.0019	0.0017	0.0020	0.0060	0.0017	0.0016	0.0043	0.0037	0.0001	0	0.0033	0.0242	0.0002	0.0008	0.0034	0.0015	0.0038	0.0060	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.049739	1	0.81001	D	1.155	0.29575	L	1.66	0.27486	T	-6.76	0.92736	D	0.833	0.82862	-1.0293	0.20681	T	0.158	0.49027	T	10	0.011115372	0.00244	T	0.016795	0.38225	T	0.288	0.60691	.	.	0.484109215787	0.48041	0.5377113857232877	0.53696	0.306616735053	0.32968	0.624718904495	0.56396	T	0.622668	0.88196	D	-0.235024	0.15989	T	-0.106786	0.62867	T	0.102144606949638	0.12591	T	0.950905	0.84591	D	0.74810517	0.80758	0.6437848	0.79179	0.72038245	0.79184	0.54444253	0.73669	-9.998	0.73900	D	0.5132293498190501	0.58668	0.216	0.50269	B	.;.;.;.	.;.;.;.	5.367910	0.90003	31	0.99947802293846078	0.99923	0.95127	0.63537	D	AEFBIJ	0.747506	0.68954	D	0.650964421836414	0.76433	6.485284	0.672967260541756	0.80332	7.275294	0.999985811417422	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	4.714000	0.61592	5.901000	0.50888	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	20.025	0.97519	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	0.007049	0.000000	0.004076	0.002924	0.000000	0.000000	0.018293	0.015152	0.05	1685.43	36	chr9	406999	.	C	T	1685.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.386;DP=481;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0.844;SOR=0.683	GT:AD:DP:GQ:PL	0/1:85,74:159:99:1697,0,1983	9	0	1	0
chr9	1056852	1056852	C	T	exonic	DMRT2	.	nonsynonymous SNV	DMRT2:NM_001370532:exon3:c.C743T:p.A248V,DMRT2:NM_181872:exon4:c.C1265T:p.A422V	.	9	1497	15	1	0	17	0.00564596	.	.	.	3203422	DMRT2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.035	0.00375416157083	0.0008	0.00119808	0.0012	0.0004	0.0010	0	0	0.0010	0	0.0039	0.0012548	194	154602	rs143092642	0.0014	0.0014	0.0012	0.0015	0.0035	0.0013	0.0013	0.0031	0.0030	0.0004	0.0008	0.0023	2.519e-05	1.873e-05	0.0010	0.0013	0.0010	0.0035	0.0008	0.0008	0.0008	0.0009	0.0025	0.0007	0.0007	0.0014	0.0011	0.0002	0	0.0004	0.0032	0	0.0002	0.0034	0.0013	0.0005	0.0025	0.381	0.78490	T	0.278	0.22627	T	0.0	0.02946	B	0.001	0.04355	B	0.752943	0.06495	N	1.116660	1	0.81001	D	0.485	0.13215	N	1.89	0.29342	T	-0.55	0.38734	N	0.05	0.03175	-1.0171	0.24657	T	0.029	0.12585	T	10	0.0028017461	0.00044	T	0.003754	0.08713	T	0.035	0.08770	.	.	0.229924730088	0.22615	0.058524252430442986	0.05793	0.00703198026273	0.00619	0.293578326702	0.09446	T	0.073194	0.34638	T	-0.572337	0.00214	T	-0.596372	0.13119	T	0.00510607698439021	0.00055	T	0.561944	0.19701	T	0.038846813	0.05253	0.054690175	0.09454	0.038846813	0.05253	0.054690175	0.09454	-3.533	0.16897	T	.	.	0.072	0.06205	B	.;.;.	.;.;.	1.351061	0.17589	13.25	0.94894061333176261	0.25739	0.47282	0.27948	N	AEFDBI	0.125911	0.24263	N	-0.5953350171647	0.19086	0.9961344	-0.427057133274327	0.24207	1.324286	0.952911742279096	0.28043	0.594549	0.33734	0	0.563428	0.19063	0	0.597571	0.31856	0	0.530356	0.10902	0	.	.	5.45	3.41	0.38145	1.066000	0.30215	1.144000	0.24428	0.599000	0.40250	0.541000	0.27275	0.589000	0.25661	0.961000	0.51904	0.3551:0.5506:0.0:0.0942	6.646	0.22130	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	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.05	2113.43	33	chr9	1056852	.	C	T	2113.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.458;DP=697;ExcessHet=0;FS=0.551;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0.371;SOR=0.7	GT:AD:DP:GQ:PL	0/1:92,86:178:99:2125,0,2356	9	0	1	0
chr9	4656074	4656074	C	A	exonic	SPATA6L	.	nonsynonymous SNV	SPATA6L:NM_001353485:exon3:c.G193T:p.V65L,SPATA6L:NM_001353486:exon3:c.G193T:p.V65L,SPATA6L:NM_001353487:exon3:c.G94T:p.V32L,SPATA6L:NM_001353484:exon4:c.G193T:p.V65L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00674944598607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.33753	T	0.161	0.31326	T	.	.	.	.	.	.	0.858354	0.08913	N	0.938409	0.996102	0.48980	D	.	.	.	0.85	0.47130	T	-1.04	0.27259	N	0.14	0.13911	-1.0099	0.26949	T	0.065	0.26702	T	9	0.091822684	0.16118	T	0.006749	0.17840	T	0.012	0.01476	0.21	0.12781	0.136095386433	0.13204	.	.	.	.	.	.	.	.	.	.	-0.291412	0.09496	T	-0.656369	0.08513	T	0.0845603696222459	0.10560	T	0.675932	0.28448	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.37914	B	.	.	1.095387	0.14792	11.33	0.94074135346603938	0.24219	0.05689	0.11608	N	AEFI	0.109165	0.21693	N	-0.884571599419204	0.11209	0.5396901	-0.852702261151657	0.13223	0.6847632	0.150526256136465	0.17432	0.638212	0.43195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.27	-2.95	0.05229	-0.526000	0.06295	-0.393000	0.09462	-0.183000	0.09960	0.059000	0.21734	0.170000	0.23335	0.947000	0.49155	0.151:0.4184:0.1545:0.2761	2.320	0.03951	906	0.23090	Spermatogenesis-associated protein 6, 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	.	.	.	.	.	.	.	.	0.05	906.43	35	chr9	4656074	.	C	A	906.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.9;DP=385;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=2.36;SOR=0.748	GT:AD:DP:GQ:PL	0/1:41,38:79:99:918,0,954	9	0	1	0
chr9	6012426	6012426	T	A	exonic	RANBP6	.	nonsynonymous SNV	RANBP6:NM_012416:exon1:c.A3182T:p.Y1061F,RANBP6:NM_001243202:exon2:c.A2126T:p.Y709F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00179872399115	7.7e-05	.	8.246e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs371185956	1.368e-06	1.368e-06	0	2.751e-06	8.994e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.872e-05	0	8.994e-07	0	0	6.57e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.191	0.21066	T	0.067	0.44302	T	0.024	0.19075	B	0.002	0.06944	B	0.029724	0.25411	N	0.447125	1	0.08975	N	0	0.06538	N	3.02	0.08986	T	-0.88	0.23808	N	0.122	0.11340	-1.0038	0.28814	T	0.009	0.03315	T	10	0.032308936	0.01380	T	0.001799	0.03089	T	0.063	0.18251	.	.	0.20549828249	0.20151	0.18040128133416425	0.17959	0.068523292122	0.07671	0.302464842796	0.10769	T	0.027281	0.20014	T	-0.34842	0.04828	T	-0.738258	0.03965	T	0.0409921611850071	0.03871	T	0.315568	0.06252	T	0.09117951	0.21358	0.041718204	0.04806	0.09117951	0.21358	0.041718204	0.04805	-1.328	0.01447	T	.	.	0.080	0.07554	B	.	.	-0.015551	0.04177	1.009	0.79097837304833352	0.12589	0.17886	0.20029	N	AEFBI	0.105429	0.21066	N	-1.02669120296607	0.08053	0.3762338	-1.0427811663421	0.08857	0.4376169	0.999995158045588	0.74766	0.722319	0.85440	0	0.662677	0.63036	0	0.575934	0.27490	0	0.735409	0.98432	0	.	.	4.67	-6.21	0.01887	-0.069000	0.11501	-1.402000	0.05524	0.665000	0.62972	0.036000	0.20778	0.000000	0.08366	0.988000	0.63387	0.2148:0.1409:0.3305:0.3138	1.14	0.01655	415	0.81806	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2858.43	36	chr9	6012426	.	T	A	2858.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.561;DP=460;ExcessHet=0;FS=2.118;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=2.36;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,75:142:99:0|1:6012426_T_A:2870,0,2446:6012426	9	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	0.05	1794.43	34	chr9	19126126	.	G	C	1794.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.702;DP=466;ExcessHet=0;FS=2.096;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-1.069;SOR=0.665	GT:AD:DP:GQ:PL	0/1:73,71:144:99:1806,0,1939	9	0	1	0
chr9	33794791	33794799	GATGCACAT	-	exonic	PRSS3	.	startloss	PRSS3:NM_001197097:exon2:c.1_8del:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.877e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs767844335	5.006e-06	4.788e-06	0	1.015e-05	7.573e-05	2.08e-06	1.34e-06	3.216e-05	2.182e-05	0	0	0	0	0	0	9.268e-07	0	7.573e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2039.39	36	chr9	33794790	.	GGATGCACAT	G	2039.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=513;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.64;MQRankSum=2.1;QD=17.28;ReadPosRankSum=1.84;SOR=0.626	GT:AD:DP:GQ:PL	0/1:64,54:118:99:2051,0,2484	9	0	1	0
chr9	33948525	33948525	G	C	exonic	UBAP2	.	nonsynonymous SNV	UBAP2:NM_001370067:exon11:c.C960G:p.S320R,UBAP2:NM_001370064:exon12:c.C846G:p.S282R,UBAP2:NM_001370068:exon12:c.C1005G:p.S335R,UBAP2:NM_001370059:exon13:c.C1119G:p.S373R,UBAP2:NM_001370062:exon13:c.C1119G:p.S373R,UBAP2:NM_018449:exon13:c.C1119G:p.S373R,UBAP2:NM_001370066:exon14:c.C1005G:p.S335R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0117167216707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.01	0.65728	D	0.992	0.64738	D	0.858	0.61127	P	0.000045	0.53742	D	0.227351	0.999683	0.21738	N	2.14	0.59869	M	2.75	0.30133	T	-2.07	0.47344	N	0.314	0.35832	-1.0758	0.08184	T	0.052	0.21921	T	10	0.09869671	0.17862	T	0.011717	0.29625	T	0.154	0.40340	0.21	0.12781	0.043077524339	0.03247	0.15786572707082136	0.15707	0.368701807779	0.38416	0.371518909931	0.21050	T	0.035712	0.23823	T	-0.119701	0.33173	T	-0.409718	0.32258	T	0.459938959825638	0.31163	T	0.878312	0.59309	D	0.28908145	0.51906	0.21148041	0.45578	0.28908145	0.51906	0.21148041	0.45577	-8.345	0.63398	D	.	.	0.403	0.63623	A	.;.;.	.;.;.	2.598264	0.33719	19.42	0.99224859384690178	0.56026	0.47817	0.28068	N	AEFBI	0.120560	0.23480	N	-0.458283979640678	0.23460	1.25998	-0.468055066319641	0.23038	1.254393	0.999403255582671	0.39524	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	6.17	0.252	0.14804	-0.264000	0.08683	0.425000	0.18262	-0.244000	0.07312	0.237000	0.24716	0.953000	0.29079	0.973000	0.55318	0.4908:0.2143:0.1804:0.1145	2.488	0.04323	300	0.87974	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1232.43	34	chr9	33948525	.	G	C	1232.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.218;DP=389;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=1.21;SOR=0.631	GT:AD:DP:GQ:PL	0/1:37,48:85:99:1244,0,872	9	0	1	0
chr9	38396909	38396909	C	-	exonic	ALDH1B1	.	frameshift deletion	ALDH1B1:NM_000692:exon2:c.1161delC:p.G388Efs*23	.	343	1147	31	1	0	33	0.0141813	.	.	.	211394	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0069	0.00439297	0.0048	0.0053	0.0054	0.0001	0.0006	0.0063	0.0110	0.0022	0.00011	17	154602	rs201408956	0.0052	0.0052	0.0052	0.0052	0.0135	0.0051	0.0050	0.0111	0.0102	0.0049	0.0059	0.0143	5.038e-05	0.0010	0.0135	0.0054	0.0065	0.0026	0.0050	0.0050	0.0054	0.0046	0.0066	0.0047	0.0046	0.0056	0.0052	0.0057	0	0.0066	0.0115	0	0.0002	0.0170	0.0050	0.0099	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014602	0.020202	0.017663	0.014620	0.000000	0.000000	0.018293	0.011364	0.05	2992.39	40	chr9	38396908	.	GC	G	2992.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.678;DP=597;ExcessHet=0;FS=0.505;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-0.137;SOR=0.742	GT:AD:DP:GQ:PL	0/1:118,93:211:99:3004,0,4127	9	0	1	0
chr9	65284041	65284041	A	T	exonic	FOXD4L5	.	nonsynonymous SNV	FOXD4L5:NM_001126334:exon1:c.T337A:p.Y113N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.412294936582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	0.003029	0.35542	U	0.000000	0.999996	0.58761	D	4.045	0.97016	H	-4.54	0.97732	D	-8.99	0.98054	D	0.869	0.86618	1.007	0.97301	D	0.964	0.98834	D	9	0.98605883	0.98894	D	0.412295	0.93623	D	0.597	0.84019	0.907	0.98068	0.527506455877	0.52396	0.3898956769775818	0.38904	.	.	0.816631674767	0.84511	D	0.885037	0.97620	D	0.282453	0.81526	D	0.167947	0.81287	D	0.998579144477844	0.94534	D	0.985451	0.95004	D	0.8345562	0.86222	0.7393658	0.84594	0.8345562	0.86223	0.7393658	0.84595	-16.73	0.98663	D	.	.	0.956	0.87566	P	.	.	5.431423	0.90826	31	0.96932592780037441	0.31664	0.89502	0.50008	D	AEFI	0.351986	0.44490	N	0.306200232062617	0.56467	3.81138	-0.0174953115752173	0.38924	2.300325	2.92381116194186E-4	0.06406	0.516011	0.20929	0	0.573888	0.26702	0	0.577349	0.28860	0	0.586402	0.36253	0	.	.	.	.	.	8.530000	0.90418	10.629000	0.83502	0.347000	0.19874	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	1.0:0.0:0.0:0.0	5.994	0.18714	.	.	Fork head domain|Fork head domain|Fork head domain conserved site1|Fork head domain|Fork head domain|Fork head 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	.	.	.	.	.	.	.	.	0.05	253.43	41	chr9	65284041	.	A	T	253.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=451;ExcessHet=0;FS=0.861;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=28.58;MQRankSum=-0.315;QD=2.08;ReadPosRankSum=1.24;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,24:122:99:0|1:65284041_A_T:265,0,3476:65284041	9	0	1	0
chr9	81613457	81613457	G	A	exonic	TLE1	.	nonsynonymous SNV	TLE1:NM_001303103:exon12:c.C1013T:p.T338M,TLE1:NM_001303104:exon12:c.C983T:p.T328M,TLE1:NM_005077:exon12:c.C983T:p.T328M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.380	.	0.0016	0.00119808	0.0034	0.0004	0.0003	0	0.0272	0.0033	0.0099	6.056e-05	0.0030918	478	154602	rs144027618	0.0031	0.0031	0.0032	0.0030	0.0028	0.0030	0.0030	0.0027	0.0027	0.0004	0.0005	3.826e-05	2.519e-05	0.0233	0	0.0028	0.0021	9.275e-05	0.0035	0.0035	0.0022	0.0049	0.0027	0.0033	0.0032	0.0024	0.0022	0.0004	0	0.0003	0	0	0.0312	0	0.0027	0.0019	0	0.002	0.91255	D	0.015	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999983	0.54805	D	3.02	0.86243	M	0.8	0.59449	T	-3.99	0.81514	D	0.625	0.69037	-0.2666	0.75905	T	0.336	0.70297	T	10	0.008703619	0.00197	T	.	.	.	0.380	0.69780	.	.	0.59497832424	0.59176	0.3596641938754536	0.35880	1.16821374417	0.79684	0.556075334549	0.46714	T	0.744577	0.92953	D	-0.226674	0.17090	T	-0.101429	0.63289	T	0.0386551671570358	0.03448	T	0.981402	0.93712	D	0.40206522	0.60876	0.38052922	0.63083	0.40206522	0.60876	0.38052922	0.63083	-4.112	0.25467	T	.	.	0.085	0.41280	B	.;.	.;.	5.631119	0.92675	32	0.9991615277806758	0.98449	0.95973	0.66961	D	AEFDBCIJ	0.916992	0.88398	D	0.876837127187402	0.90580	10.46875	0.856986584458213	0.93417	12.02916	0.999999999999856	0.74766	0.719381	0.83141	0	0.588015	0.36545	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	5.5	5.5	0.81386	8.002000	0.88029	10.014000	0.83106	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.766	0.96341	969	0.06854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	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	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2159.43	34	chr9	81613457	.	G	A	2159.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.59;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=2.03;SOR=0.706	GT:AD:DP:GQ:PL	0/1:69,76:145:99:2171,0,1744	9	0	1	0
chr9	83903259	83903259	G	A	exonic	KIF27	.	nonsynonymous SNV	KIF27:NM_001271927:exon4:c.C1259T:p.T420I,KIF27:NM_001271928:exon4:c.C1259T:p.T420I,KIF27:NM_017576:exon4:c.C1259T:p.T420I,KIF27:NM_001354069:exon5:c.C1259T:p.T420I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0272149963586	0.0002	.	0.0001	0.0005	0.0003	0	0	7.492e-05	0	6.056e-05	9.06e-05	14	154602	rs138516740	4.652e-05	4.652e-05	4.492e-05	4.813e-05	0.0003	3.727e-05	3.411e-05	0.0001	0.0001	0.0001	0.0002	0	0	0	0.0003	3.327e-05	0.0001	6.956e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	0.0003	0.0011	0.0003	0	0	0	0.0068	0.0001	0	0	0.033	0.49613	D	0.187	0.28860	T	0.868	0.52277	P	0.235	0.47925	B	0.034931	0.24708	N	0.340710	0.999812	0.20249	N	2.14	0.59869	M	-0.47	0.70133	T	-2.95	0.61580	D	0.162	0.26475	-0.6705	0.61806	T	0.290	0.66211	T	10	0.07302135	0.10979	T	0.027215	0.50054	D	0.145	0.38592	.	.	0.547470054201	0.54402	0.21518297587262433	0.21434	0.151135903681	0.17061	0.417636990547	0.27512	T	0.101224	0.40777	T	-0.283742	0.10274	T	-0.339375	0.40416	T	0.0805241315922158	0.10054	T	0.867113	0.60617	D	0.17716736	0.38669	0.19990268	0.43894	0.17716736	0.38669	0.19990268	0.43893	-4.542	0.34823	T	.	.	0.184	0.39832	B	.;.;.	.;.;.	2.113953	0.26901	17.28	0.99842810250592307	0.92316	0.28367	0.23534	N	AEFGI	0.134143	0.25405	N	0.0482741405501989	0.44062	2.687255	0.0904123680202428	0.44065	2.695515	0.0161670913621694	0.12799	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.37	5.37	0.76949	0.809000	0.26827	2.575000	0.33385	0.676000	0.76740	0.009000	0.18154	0.972000	0.29809	0.992000	0.67800	0.0731:0.0:0.9269:0.0	14.335	0.66137	980	0.04108	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1996.43	34	chr9	83903259	.	G	A	1996.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=449;ExcessHet=0;FS=1.369;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=0.809;SOR=0.883	GT:AD:DP:GQ:PL	0/1:62,76:138:99:2008,0,1515	9	0	1	0
chr9	84002574	84002574	A	G	exonic	RMI1	.	nonsynonymous SNV	RMI1:NM_001358291:exon3:c.A1588G:p.I530V,RMI1:NM_001358294:exon3:c.A1588G:p.I530V,RMI1:NM_024945:exon3:c.A1588G:p.I530V,RMI1:NM_001358292:exon4:c.A1588G:p.I530V,RMI1:NM_001358293:exon4:c.A1588G:p.I530V	.	.	.	.	.	.	.	.	.	.	.	3211227	RMI1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.033	0.00627259642293	0.0007	0.00219649	0.0006	0.0046	0.0004	0	0	0.0003	0	0.0001	0.0006533	101	154602	rs148663552	0.0003	0.0003	0.0003	0.0003	0.0042	0.0003	0.0003	0.0036	0.0034	0.0042	0.0006	0	0	0	0.0019	0.0002	0.0007	6.956e-05	0.0016	0.0016	0.0018	0.0014	0.0046	0.0014	0.0014	0.0041	0.0039	0.0046	0.0044	0.0010	0	0	0	0.0068	0.0004	0.0014	0	0.66	0.04699	T	0.427	0.13832	T	0.001	0.07471	B	0.001	0.04355	B	0.118641	0.19107	N	0.538057	0.999536	0.21028	N	0.115	0.08564	N	1.67	0.27331	T	-0.24	0.10833	N	0.076	0.05037	-1.0267	0.21527	T	0.014	0.05705	T	9	0.0038154721	0.00072	T	0.006273	0.16464	T	0.033	0.08068	.	.	0.171388866994	0.16791	0.23856630255959738	0.23770	0.0634816996295	0.07066	0.304292231798	0.11044	T	0.063838	0.32279	T	-0.651828	0.00071	T	-0.707302	0.05435	T	0.00195745040701494	0.00020	T	0.562444	0.19755	T	0.06653665	0.14324	0.04339447	0.05390	0.06653665	0.14324	0.04339447	0.05390	-4.059	0.24683	T	.	.	0.063	0.01449	B	.	.	0.923165	0.12983	9.487	0.6785772655638076	0.08481	0.40650	0.26483	N	AEFDGBI	0.055342	0.10140	N	-1.00649680399952	0.08468	0.3971698	-0.898613724633751	0.12127	0.6219934	0.999998508330077	0.74766	0.741868	0.97996	0	0.774882	0.99574	0	0.709663	0.75317	0	0.503917	0.08554	0	.	.	5.29	-6.37	0.01790	0.073000	0.14504	-0.023000	0.12899	-0.050000	0.17177	0.947000	0.32937	0.043000	0.21642	0.998000	0.85391	0.329:0.1005:0.3734:0.1971	2.587	0.04541	957	0.09725	Recq-mediated genome instability protein 1, C-terminal OB-fold 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	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	1629.43	35	chr9	84002574	.	A	G	1629.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.428;DP=479;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-2.023;SOR=0.652	GT:AD:DP:GQ:PL	0/1:58,61:119:99:1641,0,1525	9	0	1	0
chr9	86018822	86018822	G	C	splicing	NAA35	NM_001321881:exon21:c.2037+1G>C;NM_024635:exon21:c.2037+1G>C;NM_001321882:exon21:c.2037+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353356	0.86736	D	0.269795	0.86563	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192679	0.94764	34	0.9954556175864131	0.70773	0.99856	0.99854	D	AEFBI	.	.	.	1.15891206100683	0.99082	20.59108	0.998694741300778	0.98602	18.76144	0.999999999999889	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.137589	0.03823	0	0.109871	0.03346	0	0.987846	0.96420	5.5	5.5	0.81386	9.434000	0.96726	11.731000	0.94998	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.387	0.94553	917	0.20147	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.35	839.95	35	chr9	86018822	.	G	C	839.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.846;DP=779;ExcessHet=7.0302;FS=147.352;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=1.58;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,19:76:99:.:.:182,0,1538:.	3	0	7	0
chr9	87886225	87886225	G	A	exonic	SPATA31E1	.	nonsynonymous SNV	SPATA31E1:NM_178828:exon4:c.G1738A:p.V580I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0066881980533	.	.	8.292e-06	0	8.642e-05	0	0	0	0	0	6.5e-06	1	154602	rs775005835	1.368e-06	1.368e-06	2.723e-06	0	2.237e-05	2.3e-07	9e-08	.	.	0	2.237e-05	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.12511	T	0.233	0.24913	T	0.074	0.24142	B	0.043	0.24256	B	0.017306	0.01462	N	2.606050	1	0.08975	N	0.475	0.13142	N	3.29	0.06445	T	-0.76	0.21215	N	0.066	0.03841	-1.0167	0.24787	T	0.009	0.03359	T	10	0.040711373	0.02663	T	0.006688	0.17671	T	0.010	0.01040	0.346	0.34112	0.0401082797425	0.02173	0.03546651431128592	0.03493	0.0108165658302	0.01002	0.491160988808	0.37599	T	0.001272	0.00758	T	-0.442629	0.01248	T	-0.790717	0.02145	T	0.0762349577251496	0.09498	T	0.327267	0.06786	T	0.029890088	0.02559	0.02857471	0.01105	0.029890088	0.02558	0.02857471	0.01105	-3.259	0.13214	T	.	.	0.104	0.18950	B	.	.	0.207269	0.05911	2.353	0.38109870486167741	0.02551	0.00242	0.01343	N	AEFBI	0.023604	0.01338	N	-1.24930923560901	0.04309	0.1942169	-1.33566314047653	0.03978	0.1866709	0.750711025430957	0.23355	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.51	-0.794	0.10367	0.413000	0.20869	-20.000000	0.00162	-0.970000	0.01946	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.1465:0.0:0.3942:0.4593	3.182	0.06195	957	0.09725	SPATA31/FAM205	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2174.43	34	chr9	87886225	.	G	A	2174.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=600;ExcessHet=0;FS=1.294;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=-0.537;SOR=0.816	GT:AD:DP:GQ:PL	0/1:70,80:150:99:2186,0,1709	9	0	1	0
chr9	88129634	88129634	A	G	exonic	SPATA31C2	.	stoploss	SPATA31C2:NM_001166137:exon4:c.T3403C:p.X1135Q,SPATA31C2:NM_001350978:exon4:c.T3403C:p.X1135Q	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1433687331	0.0009	0.0013	0.0009	0.0009	0.0032	0.0009	0.0008	0.0021	0.0017	0.0005	0.0017	0.0004	0.0004	0.0004	0.0032	0.0008	0.0017	0.0016	0.0020	0.0031	0.0022	0.0019	0.0030	0.0019	0.0018	0.0027	0.0026	0.0013	0.0044	0.0018	0.0012	0.0008	0.0002	0.0068	0.0030	0.0010	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	399.43	49	chr9	88129634	.	A	G	399.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.49;DP=487;ExcessHet=0;FS=60.962;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=45.8;MQRankSum=-6.407;QD=2.74;ReadPosRankSum=-2.919;SOR=6.331	GT:AD:DP:GQ:PL	0/1:120,26:146:99:411,0,3338	9	0	1	0
chr9	88130935	88130935	A	G	exonic	SPATA31C2	.	nonsynonymous SNV	SPATA31C2:NM_001166137:exon4:c.T2102C:p.V701A,SPATA31C2:NM_001350978:exon4:c.T2102C:p.V701A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.411e-05	0	0	0.0003	0	3.057e-05	0	0.0003	6.47e-05	10	154602	rs781756590	5.406e-05	5.404e-05	5.856e-05	4.952e-05	0.0002	4.412e-05	4.084e-05	0.0001	0.0001	2.989e-05	0	0	5.038e-05	0	0	4.947e-05	6.63e-05	0.0002	3.942e-05	3.94e-05	5.138e-05	2.69e-05	8.818e-05	1.715e-05	1.129e-05	3.761e-05	2.574e-05	0	0	0	0	0	0	0	8.818e-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	.	.	.	.	.	.	.	.	0.05	1714.43	38	chr9	88130935	.	A	G	1714.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.709;DP=530;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.14;MQRankSum=-0.259;QD=11.82;ReadPosRankSum=-0.999;SOR=0.743	GT:AD:DP:GQ:PL	0/1:75,70:145:99:1726,0,1917	9	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	.	.	.	.	.	.	.	.	0.5	7760.04	386	chr9	92080918	.	G	C	7760.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-3.684;DP=3889;ExcessHet=22.563;FS=438.653;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.08;SOR=14.782	GT:AD:DP:GQ:PL	0/1:211,148:385:99:830,0,3336	0	0	10	0
chr9	93676716	93676716	-	ACCACCCCTGCCTCC	exonic	PHF2	.	nonframeshift insertion	PHF2:NM_005392:exon21:c.2955_2956insACCACCCCTGCCTCC:p.T996_S997insTPAST	.	507	986	24	5	0	34	0.0169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6675	.	0.0115	0	0	0	0	0.0076	0.02	0.0224	0.000461	12	26028	.	0.0102	0.0065	0.0089	0.0115	0.0303	0.0100	0.0099	0.0291	0.0286	0.0013	0.0043	0.0408	8.54e-05	0.0041	0.0225	0.0067	0.0121	0.0303	0.0095	0.0081	0.0076	0.0112	0.0273	0.0088	0.0085	0.0227	0.0210	0.0012	0	0.0074	0.0640	0.0008	0.0112	0.0139	0.0079	0.0133	0.0273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1014.01	39	chr9	93676716	.	T	TACCACCCCTGCCTCC	1014.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.835;DP=524;ExcessHet=0;FS=0;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-0.433;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,36:75:99:0|1:93676716_T_TACCACCCCTGCCTCC:1025,0,955:93676716	8	0	1	1
chr9	110385901	110385901	C	G	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon43:c.G10234C:p.E3412Q	.	451	1049	21	1	0	23	0.0108439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	.	0.0039	0.00479233	0.0054	0.0012	0.0025	0	0.0053	0.0061	0.0034	0.0105	0.0051746	800	154602	rs145193955	0.0061	0.0061	0.0060	0.0063	0.0111	0.0060	0.0060	0.0105	0.0102	0.0008	0.0025	0.0015	0	0.0050	0.0059	0.0065	0.0058	0.0111	0.0043	0.0043	0.0046	0.0040	0.0110	0.0040	0.0039	0.0086	0.0078	0.0008	0	0.0031	0	0	0.0036	0.0068	0.0069	0.0043	0.0110	.	.	.	0.002	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000001	0.62929	D	0.095495	0.810376	0.34633	D	1.795	0.47270	L	.	.	.	.	.	.	0.436	0.47487	-1.1058	0.03457	T	0.072	0.29291	T	10	0.009075999	0.00205	T	.	.	.	0.136	0.36778	.	.	0.043077524339	0.03247	0.4898405157219356	0.48904	0.409573402614	0.41769	0.550909638405	0.45985	T	0.015123	0.12745	T	-0.395989	0.02459	T	-0.332192	0.41225	T	0.00490220077480139	0.00053	T	0.70483	0.31518	T	0.16026472	0.35956	0.11986449	0.28929	0.16026472	0.35956	0.11986449	0.28929	-3.781	0.20521	T	.	.	0.090	0.12702	B	.;.	.;.	3.147362	0.42591	21.6	0.9974708888691064	0.83927	0.94525	0.61448	D	AEFBI	0.642113	0.61920	D	0.353146153180253	0.58905	4.065826	0.352233675522645	0.58641	4.035978	0.978342231168476	0.29912	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.07	4.18	0.48473	3.062000	0.49664	3.276000	0.37195	0.593000	0.32247	1.000000	0.71638	0.998000	0.33993	0.995000	0.73285	0.0:0.9267:0.0:0.0733	13.976	0.63788	975	0.05339	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP 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	0.006042	0.000000	0.001359	0.002924	0.000000	0.017241	0.021341	0.007576	0.05	807.43	39	chr9	110385901	.	C	G	807.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.83;DP=410;ExcessHet=0;FS=6.715;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=0.976;SOR=1.597	GT:AD:DP:GQ:PL	0/1:54,30:84:99:819,0,1450	9	0	1	0
chr9	113297860	113297860	A	T	exonic	RNF183	.	nonsynonymous SNV	RNF183:NM_001371234:exon2:c.T325A:p.F109I,RNF183:NM_145051:exon2:c.T325A:p.F109I,RNF183:NM_001371235:exon4:c.T325A:p.F109I,RNF183:NM_001371236:exon4:c.T325A:p.F109I,RNF183:NM_001371237:exon5:c.T325A:p.F109I	.	.	.	.	.	.	.	.	.	.	.	4062325	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.087	0.00583538511481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.863e-07	6.84e-07	0	1.381e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.03	0.54159	D	0.01	0.15535	B	0.01	0.14941	B	0.054785	0.22695	N	0.450953	0.984755	0.40188	D	0.975	0.24501	L	2.34	0.16351	T	-1.23	0.31170	N	0.333	0.41557	-1.0613	0.11434	T	0.029	0.12497	T	10	0.14353445	0.27249	T	0.005835	0.15161	T	0.087	0.25287	0.397	0.42426	0.272205846399	0.26826	0.8197733766959339	0.81934	0.962697856736	0.73061	0.53913205862	0.44323	T	0.09415	0.39357	T	-0.130719	0.31380	T	-0.425545	0.30441	T	0.750450968742371	0.43310	D	0.511749	0.16382	T	0.16037004	0.35973	0.15977201	0.37245	0.16037004	0.35973	0.15977201	0.37244	-4.044	0.24460	T	.	.	0.177	0.39168	B	.;.;.;.	.;.;.;.	3.622481	0.51274	23.1	0.98128302945508583	0.38498	0.79352	0.39305	D	AEFDBI	0.322640	0.42507	N	-0.216442194104903	0.32459	1.830777	-0.0224698456024768	0.38703	2.283981	0.999981910770165	0.51787	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.98	4.98	0.65679	2.779000	0.47420	8.900000	0.78367	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	1.0:0.0:0.0:0.0	12.683	0.56296	819	0.41190	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	363.43	46	chr9	113297860	.	A	T	363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=455;ExcessHet=0;FS=1.172;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.61;ReadPosRankSum=-0.435;SOR=0.988	GT:AD:DP:GQ:PL	0/1:40,15:55:99:375,0,1091	9	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	.	.	.	.	.	.	.	.	0.3333	1608.71	231	chr9	114406374	.	C	G	1608.71	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-3.344;DP=1986;ExcessHet=4.5998;FS=133.457;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=0.598;SOR=11.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,55:240:99:0|1:114406374_C_G:499,0,5903:114406374	3	0	6	1
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	.	.	.	.	.	.	.	.	0.15	961.48	240	chr9	114406375	.	C	G	961.48	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-6.01;DP=1757;ExcessHet=0.7463;FS=122.086;InbreedingCoeff=-0.1776;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=0.49;SOR=10.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,55:240:99:0|1:114406374_C_G:499,0,5903:114406374	7	0	3	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.5	6507.37	305	chr9	122724732	.	T	C	6507.37	.	AC=7;AF=0.5;AN=14;BaseQRankSum=7.17;DP=3293;ExcessHet=7.0302;FS=29.826;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=58.43;MQRankSum=-15.33;QD=2.86;ReadPosRankSum=-7.039;SOR=4.177	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:281,50:331:99:0|1:122724732_T_C:1085,0,11490:122724732	0	0	7	3
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.35	4321.95	292	chr9	122724738	.	T	C	4321.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.576;DP=2474;ExcessHet=7.0302;FS=34.706;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.47;MQRankSum=-16.72;QD=1.99;ReadPosRankSum=-5.814;SOR=6.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:276,32:308:99:0|1:122724732_T_C:513,0,11460:122724732	3	0	7	0
chr9	127707149	127707149	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T118C:p.F40L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.019678184343	.	.	8.323e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs757079161	0.0001	0.0036	0.0001	8.536e-05	0.0002	9.346e-05	8.764e-05	0.0001	9.824e-05	9.678e-05	0	0	2.569e-05	0	0	0.0001	5.349e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.191	0.28391	T	0.957	0.54824	D	0.799	0.58136	P	0.000003	0.62929	N	0.105467	0.999583	0.47691	D	.	.	.	1.01	0.41058	T	-5.4	0.85103	D	0.489	0.52829	-0.8745	0.50188	T	0.164	0.50078	T	10	0.3438111	0.51386	T	0.019678	0.42104	T	0.159	0.41286	0.15	0.05339	0.612519348966	0.60940	0.6570251018140777	0.65639	0.875989159395	0.69568	.	.	.	0.327925	0.69838	T	-0.210031	0.19374	T	-0.357944	0.38290	T	0.938539505004883	0.60923	D	0.579842	0.20971	T	0.85248286	0.87520	0.67909664	0.81148	0.85248286	0.87521	0.67909664	0.81149	-9.512	0.72170	D	.	.	0.947	0.86617	P	.;.	.;.	4.218635	0.63791	24.6	0.99813715176146511	0.89708	0.79497	0.39404	D	AEFDGBCI	0.430877	0.49340	N	0.327399038086192	0.57559	3.923681	0.314456036050452	0.56389	3.802111	0.999999899276312	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	4.33	0.51083	4.073000	0.57290	3.987000	0.40955	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:0.0857:0.0:0.9143	9.215	0.36505	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	.	.	.	.	.	.	.	.	0.0625	62.12	53	chr9	127707149	.	T	C	62.12	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-2.429;DP=520;ExcessHet=0;FS=110.281;InbreedingCoeff=-0.1326;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.345;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,10:54:72:0|1:127707148_G_A:72,0,1575:127707148	7	0	1	2
chr9	127707150	127707150	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T119C:p.F40S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.0295012344328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.025e-05	0.0013	2.604e-05	1.446e-05	3.126e-05	1.404e-05	1.209e-05	1.739e-05	1.477e-05	3.126e-05	0	0	0	0	0	2.5e-05	0	1.182e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.053	0.47336	T	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	D	0.105467	0.99989	0.50595	D	.	.	.	1.1	0.39050	T	-7.17	0.94145	D	0.892	0.90025	-0.7757	0.56542	T	0.227	0.59233	T	10	0.62868714	0.68391	D	0.029501	0.51995	D	0.321	0.64318	0.292	0.25400	0.617737460462	0.61464	0.8563961070607592	0.85602	1.09668489094	0.77603	.	.	.	0.333157	0.70304	T	0.256066	0.79166	D	0.130044	0.78896	D	0.995957314968109	0.88384	D	0.631737	0.24648	T	0.883188	0.89932	0.88241297	0.93731	0.883188	0.89933	0.88241297	0.93731	-12.272	0.88445	D	.	.	0.839	0.79209	P	.;.	.;.	4.916668	0.80938	27.4	0.99871547018832008	0.94902	0.88781	0.48875	D	AEFDGBCI	0.697108	0.65523	D	0.612068453635021	0.73938	6.048333	0.59676151836649	0.74706	6.182971	0.9999999998598	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	5.46	0.80021	5.665000	0.67722	5.919000	0.51137	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	13.490	0.60843	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	119.12	62	chr9	127707150	.	T	C	119.12	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-1.465;DP=451;ExcessHet=0.2633;FS=83.411;InbreedingCoeff=-0.1905;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=2.3;SOR=5.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,10:54:72:0|1:127707148_G_A:72,0,1575:127707148	6	0	2	2
chr9	127980007	127980007	A	G	exonic	FAM102A	.	nonsynonymous SNV	FAM102A:NM_001035254:exon1:c.T131C:p.V44A	.	.	.	.	.	.	.	.	.	.	.	3248428	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.00531887321068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.798	0.03134	T	0.701	0.05707	T	0.0	0.02946	B	0.001	0.04355	B	0.019358	0.27277	N	0.366716	0.974646	0.39122	D	-0.255	0.03828	N	1.02	0.40749	T	0.36	0.03700	N	0.096	0.07673	-1.0857	0.06281	T	0.056	0.23527	T	10	0.06942579	0.09959	T	0.005319	0.13618	T	0.034	0.08419	0.252	0.19067	0.319114376414	0.31517	0.19507635666791973	0.19425	1.31384836846	0.83279	0.604379057884	0.53523	T	0.025719	0.19174	T	-0.329415	0.06155	T	-0.710958	0.05246	T	0.194768741726875	0.20122	T	0.707729	0.31835	T	0.042100772	0.06324	0.05990874	0.11322	0.042100772	0.06324	0.05990874	0.11321	-6.354	0.49149	T	.	.	0.082	0.08705	B	.	.	2.969256	0.39573	21.0	0.945863427786377	0.25134	0.45353	0.27519	N	ALL	0.131634	0.25065	N	-0.513983331471843	0.21627	1.149145	-0.347529641144298	0.26586	1.469431	0.999999999379689	0.74766	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.56214	0.19341	0	.	.	4.87	2.14	0.26518	1.777000	0.38234	7.937000	0.75328	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.7331:0.0:0.2669:0.0	7.446	0.26380	395	0.83006	NT-type C2 domain|NT-type 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	.	.	.	.	.	.	.	.	0.05	1316.43	34	chr9	127980007	.	A	G	1316.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.29;DP=444;ExcessHet=0;FS=3.556;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=1.45;SOR=1.063	GT:AD:DP:GQ:PL	0/1:55,56:111:99:1328,0,1287	9	0	1	0
chr9	128424270	128424270	C	G	exonic	CERCAM	.	nonsynonymous SNV	CERCAM:NM_001286760:exon4:c.C325G:p.Q109E,CERCAM:NM_016174:exon4:c.C559G:p.Q187E	.	385	1135	1	1	0	3	0.00131984	0.4775	0.506	.	2258432	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.089	0.0105516865121	0.0010	.	0.0006	9.671e-05	0	0	0	0.0010	0	0.0002	0.0005433	84	154602	rs146651928	0.0009	0.0009	0.0010	0.0009	0.0012	0.0009	0.0009	0.0011	0.0011	5.975e-05	0.0002	0	0	0.0002	0.0003	0.0012	0.0006	3.478e-05	0.0006	0.0006	0.0006	0.0005	0.0010	0.0005	0.0004	0.0008	0.0008	0.0002	0	0.0003	0	0	0	0	0.0010	0.0014	0	0.076	0.41637	T	0.248	0.64786	T	0.402	0.34891	B	0.109	0.31370	B	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	1.815	0.47718	L	2.02	0.21119	T	-1.44	0.51157	N	0.433	0.48689	-1.1006	0.04020	T	0.046	0.19760	T	10	0.07437676	0.11530	T	0.010552	0.27217	T	0.089	0.25827	.	.	0.322230723748	0.31824	0.870983006460846	0.87064	0.606290883428	0.55480	0.611343383789	0.54505	T	0.024644	0.19962	T	-0.419336	0.01727	T	-0.425564	0.30439	T	0.0394434779882431	0.03590	T	0.935806	0.81545	D	0.31747216	0.54425	0.29201812	0.55227	0.31747216	0.54425	0.29201812	0.55227	-5.34	0.40688	T	.	.	0.092	0.29833	B	.;.;.;.;.	.;.;.;.;.	4.348779	0.66783	25.0	0.98960996604583873	0.49324	0.97749	0.76855	D	AEFDBI	0.772623	0.70689	D	0.0265464202005674	0.43065	2.606803	0.117777208685695	0.45459	2.808624	0.999999642086983	0.74766	0.706548	0.73137	0	0.389834	0.06304	2	0.667671	0.60360	0	0.714379	0.83352	0	.	.	4.61	4.61	0.56724	6.123000	0.71339	7.614000	0.62028	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0:1.0:0.0:0.0	16.179	0.81704	390	0.83257	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.05	1195.43	33	chr9	128424270	.	C	G	1195.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.865;DP=496;ExcessHet=0;FS=0.719;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.598;SOR=0.806	GT:AD:DP:GQ:PL	0/1:53,54:107:99:1207,0,1340	9	0	1	0
chr9	131151751	131151751	A	G	exonic	NUP214	.	nonsynonymous SNV	NUP214:NM_001318324:exon17:c.A2263G:p.I755V,NUP214:NM_005085:exon17:c.A2293G:p.I765V	Leukemia, T-cell acute lymphoblastic, somatic;Leukemia, acute myeloid, somatic	9	1462	46	5	0	56	0.0187919	.	.	.	711799	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.073	.	0.0061	0.0091853	0.0097	0.0014	0.0025	0	0.0011	0.0089	0.0143	0.0321	0.0090361	1397	154602	rs61756081	0.0086	0.0087	0.0078	0.0094	0.0305	0.0085	0.0084	0.0295	0.0291	0.0012	0.0032	0.0228	0.0001	0.0014	0.0157	0.0076	0.0097	0.0305	0.0054	0.0054	0.0055	0.0053	0.0305	0.0051	0.0050	0.0265	0.0249	0.0012	0	0.0036	0.0202	0.0002	0.0014	0.0034	0.0068	0.0071	0.0305	0.247	0.22486	T	0.071	0.43721	T	0.996	0.68779	D	0.994	0.82059	D	0.000812	0.41658	D	0.000000	1	0.81001	D	2.36	0.67893	M	1.15	0.40469	T	-0.71	0.20145	N	0.217	0.24260	-0.8791	0.49833	T	0.098	0.36548	T	10	0.00616318	0.00139	T	.	.	.	0.073	0.21317	.	.	0.485999240436	0.48233	0.21308024907835285	0.21224	0.0833740660745	0.09400	0.589299201965	0.51395	T	0.190715	0.54534	T	-0.43884	0.01314	T	-0.380142	0.35705	T	0.0246661170356991	0.01229	T	0.847515	0.52873	T	0.0484663	0.08453	0.06507281	0.13137	0.057485644	0.11446	0.06507281	0.13136	-5.236	0.39305	T	.	.	0.124	0.29394	B	.;.;.	.;.;.	3.931126	0.57454	23.9	0.99851761160429398	0.93102	0.95398	0.64564	D	AEGBCI	0.726859	0.67539	D	0.356230630539747	0.59069	4.083457	0.480121756304526	0.66674	4.982927	0.999999999999521	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	5.748000	0.68333	8.000000	0.76147	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.561	0.75984	357	0.85079	.;.;.	.	.	.	.	.	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	0.015657	0.000000	0.009511	0.043860	0.000000	0.008621	0.015432	0.018939	0.05	1971.43	34	chr9	131151751	.	A	G	1971.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.656;DP=510;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-1.853;SOR=0.713	GT:AD:DP:GQ:PL	0/1:110,86:196:99:1983,0,2827	9	0	1	0
chr9	132648546	132648546	C	T	exonic	DDX31	.	nonsynonymous SNV	DDX31:NM_001322340:exon10:c.G1061A:p.R354H,DDX31:NM_001322342:exon10:c.G530A:p.R177H,DDX31:NM_001322343:exon10:c.G674A:p.R225H,DDX31:NM_022779:exon10:c.G1061A:p.R354H,DDX31:NM_138620:exon10:c.G1061A:p.R354H,DDX31:NM_001322341:exon11:c.G773A:p.R258H	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428	0.0357944468997	0.0021	0.000998403	0.0025	0.0008	0.0012	0	0.0009	0.0038	0.0033	0.0009	0.0025226	390	154602	rs143806652	0.0034	0.0034	0.0035	0.0033	0.0039	0.0033	0.0033	0.0038	0.0038	0.0005	0.0015	0.0015	2.522e-05	0.0019	0.0033	0.0039	0.0037	0.0012	0.0023	0.0023	0.0024	0.0022	0.0037	0.0021	0.0020	0.0033	0.0032	0.0009	0	0.0016	0.0017	0	0.0011	0.0136	0.0037	0.0024	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	1.25	0.31749	L	2.41	0.15492	T	-4.79	0.80682	D	0.795	0.81162	-0.9288	0.44313	T	0.154	0.48498	T	10	0.04234445	0.02975	T	0.035794	0.56579	D	0.428	0.73517	.	.	0.808224753224	0.80642	0.7170403579168975	0.71647	0.728558587386	0.62620	0.775284767151	0.78217	T	0.022535	0.17359	T	-0.242537	0.15027	T	-0.120211	0.61785	T	0.0459034787107517	0.04766	T	0.991044	0.97243	D	0.77226734	0.82184	0.6375237	0.78833	0.77226734	0.82185	0.6375237	0.78833	-10.39	0.76369	D	.	.	0.685	0.75622	P	.;.;.;.	.;.;.;.	5.394745	0.90360	31	0.99936997202790934	0.99661	0.98795	0.86952	D	AEFBI	0.830421	0.74914	D	0.951897285188662	0.94060	12.47286	0.935847212120007	0.96954	15.37658	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.236000	0.77612	7.686000	0.65553	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.868	0.96822	730	0.54327	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-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	0.004550	0.000000	0.005435	0.014620	0.000000	0.000000	0.006173	0.000000	0.05	615.43	34	chr9	132648546	.	C	T	615.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.73;DP=248;ExcessHet=0;FS=4.715;InbreedingCoeff=-0.0528;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.23;ReadPosRankSum=0.759;SOR=2.004	GT:AD:DP:GQ:PL	0/1:12,20:32:99:627,0,256	9	0	1	0
chr9	132883980	132883980	C	G	exonic	SPACA9	.	nonsynonymous SNV	SPACA9:NM_001316897:exon2:c.C33G:p.I11M,SPACA9:NM_001316898:exon2:c.C33G:p.I11M,SPACA9:NM_001316900:exon2:c.C33G:p.I11M,SPACA9:NM_018956:exon2:c.C33G:p.I11M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0119363904338	.	.	3.297e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs563527507	2.257e-05	2.257e-05	1.497e-05	3.025e-05	0.0004	1.61e-05	1.416e-05	0.0003	0.0002	0	0	0	0	0	0	1.799e-06	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.47320	D	0.039	0.52389	D	0.878	0.48338	P	0.605	0.55692	P	0.006487	0.31997	N	0.260548	0.996327	0.23049	N	.	.	.	0.78	0.49358	T	-1.47	0.35991	N	0.462	0.49874	-0.9691	0.37386	T	0.125	0.42966	T	10	0.1461477	0.27711	T	0.011936	0.30057	T	0.130	0.35528	0.328	0.31196	0.338834610459	0.33488	0.24086321471083597	0.24000	0.271789346876	0.29692	.	.	.	0.127295	0.45422	T	-0.330182	0.06098	T	-0.437761	0.29060	T	0.606267511844635	0.36650	D	0.819218	0.50742	T	0.0980703	0.23127	0.11514858	0.27797	0.0980703	0.23126	0.11514858	0.27797	-4.445	0.33908	T	.	.	0.155	0.34775	B	.;.;.	.;.;.	0.332585	0.07066	3.633	0.99109816647937177	0.52699	0.02839	0.07588	N	AEFDBI	0.051767	0.09177	N	-0.400355002566945	0.25457	1.382034	-0.583547883115235	0.19921	1.071044	0.992564217432498	0.32885	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.16	-3.54	0.04356	-1.580000	0.02225	-2.015000	0.04342	-0.217000	0.08171	0.002000	0.15269	0.000000	0.08366	0.641000	0.32449	0.1598:0.2796:0.3736:0.1869	2.765	0.04992	791	0.46100	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1289.43	37	chr9	132883980	.	C	G	1289.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.655;DP=451;ExcessHet=0;FS=1.365;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=-1.01;SOR=0.875	GT:AD:DP:GQ:PL	0/1:83,57:140:99:1301,0,1981	9	0	1	0
chr9	133208141	133208141	T	A	exonic	OBP2B	.	nonsynonymous SNV	OBP2B:NM_001288987:exon3:c.A269T:p.Y90F,OBP2B:NM_014581:exon3:c.A269T:p.Y90F	.	654	836	30	2	0	34	0.0199297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	.	0.0079	0.0137	0.0018	0.0039	0.0052	0.0106	0.0048	0.0011	3.84e-05	1	26028	rs1413608059	0.0005	0.0049	0.0004	0.0007	0.0009	0.0005	0.0005	0.0007	0.0007	0.0003	0.0007	0.0004	0.0007	0.0023	0.0002	0.0004	0.0007	0.0009	0.0004	0.0040	0.0004	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	0.0002	0.0012	0.0002	0	0.0004	0.0004	0	0.0005	0.0010	0.0009	0.297	0.14645	T	0.337	0.18178	T	0.393	0.34680	B	0.257	0.39298	B	0.026576	0.25897	N	0.188123	1	0.19238	N	1.055	0.26876	L	3.25	0.06762	T	-2.4	0.52776	N	0.141	0.20262	-0.9592	0.39330	T	0.012	0.04795	T	10	0.0057539046	0.00128	T	.	.	.	0.069	0.20116	.	.	0.0297737177859	0.01360	0.3454499937520817	0.34458	0.164113916074	0.18517	0.433351457119	0.29667	T	0.033824	0.23072	T	-0.290422	0.09595	T	-0.654947	0.08611	T	0.0220651653645309	0.00916	T	0.417158	0.10968	T	0.052634977	0.09844	0.045453	0.06119	0.052634977	0.09844	0.045453	0.06119	-5.794	0.44522	T	.	.	0.071	0.11124	B	.;.;.	.;.;.	-0.024567	0.04115	0.974	0.14583370763224782	0.00327	0.00218	0.01233	N	AEFDBI	0.012910	0.00155	N	-1.56437998921638	0.01452	0.06336967	-1.64152865485638	0.01420	0.06421677	0.00212614337787241	0.09174	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	1.91	0.679	0.17141	-0.405000	0.07258	-1.122000	0.06265	-1.135000	0.01450	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.2549:0.0:0.0:0.7451	5.651	0.16894	.	.	Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid 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	0.051309	0.073864	0.030055	0.074850	0.100000	0.025862	0.051020	0.035714	0.2	829.58	36	chr9	133208141	.	T	A	829.58	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.06;DP=164;ExcessHet=1.5895;FS=5.808;InbreedingCoeff=-0.2503;MLEAC=4;MLEAF=0.2;MQ=55.82;MQRankSum=-3.866;QD=10.24;ReadPosRankSum=-0.126;SOR=1.56	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:3,3:6:99:.:.:104,0,100:.	6	0	4	0
chr9	133463535	133463535	T	G	exonic	CACFD1	.	nonsynonymous SNV	CACFD1:NM_001135775:exon2:c.T174G:p.I58M,CACFD1:NM_001242369:exon2:c.T174G:p.I58M,CACFD1:NM_001242370:exon2:c.T174G:p.I58M,CACFD1:NM_017586:exon2:c.T174G:p.I58M	.	436	45	253	778	10	1819	0.952607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	.	.	0.00259585	0.0059	0.0013	0.0022	0	0.0148	0.0066	0.0066	0.0084	0.0001153	3	26028	rs3124765	0.0069	0.0069	0.0068	0.0070	0.0087	0.0068	0.0067	0.0082	0.0080	0.0012	0.0019	0.0028	0	0.0129	0.0050	0.0072	0.0067	0.0087	0.0053	0.0053	0.0048	0.0058	0.0079	0.0050	0.0049	0.0066	0.0064	0.0012	0.0033	0.0033	0.0023	0	0.0145	0.0340	0.0071	0.0057	0.0079	0.092	0.51248	T	0.308	0.47828	T	0.999	0.77913	D	0.996	0.84481	D	0.000006	0.62929	D	0.101533	0.0179067	0.39852	P	2.14	0.59869	M	0.63	0.88997	T	-1.44	0.46146	N	0.807	0.92084	0.251	0.86755	D	0.697	0.89561	D	9	0.056706637	0.06399	T	.	.	.	0.400	0.71401	.	.	0.285316908763	0.28143	0.8590021238515612	0.85863	0.562485881727	0.52722	0.563520610332	0.47765	T	0.07504	0.35083	T	-0.018878	0.49012	T	0.206221	0.83466	D	0.0508436183059116	0.05647	T	0.880812	0.74900	D	0.11979528	0.28200	0.14666119	0.34737	0.11979528	0.28200	0.14666119	0.34736	-4.443	0.36764	T	.	.	0.661	0.71374	P	.;.;.;.;.	.;.;.;.;.	0.703178	0.10722	7.411	0.9871455286076215	0.45113	0.14597	0.18486	N	AEFDGBCI	0.234158	0.35696	N	-0.888515522714864	0.11116	0.5346667	-1.0411234950966	0.08893	0.4395312	0.999687218535794	0.41756	0.651	0.46895	0	0.611049	0.52481	0	0.779548	0.98927	0	0.683762	0.67416	0	.	.	4.81	-2.59	0.05847	-2.293000	0.01226	-5.196000	0.01811	-2.098000	0.00395	0.000000	0.06391	0.000000	0.08366	0.488000	0.28746	0.1614:0.4159:0.0:0.4227	6.727	0.22551	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	.	.	.	.	.	.	.	.	0.05	22798.2	89	chr9	133463535	.	T	G	22798.2	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.17;DP=1112;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.25;ReadPosRankSum=0.21;SOR=0.723	GT:AD:DP:GQ:PL	0/1:0,54:134:99:3520,1963,1802	9	0	1	0
chr9	133568440	133568440	G	A	exonic	ADAMTSL2	.	nonsynonymous SNV	ADAMTSL2:NM_001145320:exon14:c.G2042A:p.R681Q,ADAMTSL2:NM_014694:exon14:c.G2042A:p.R681Q	Geleophysic dysplasia 1, Autosomal recessive	0	1472	48	2	0	52	0.0173565	.	.	.	317572	Geleophysic_dysplasia_1|not_specified	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.115	0.0677937102145	.	.	.	.	.	.	.	.	.	.	0.0001423	22	154602	rs553955759	0.0026	0.0026	0.0021	0.0030	0.0155	0.0025	0.0025	0.0148	0.0145	0.0003	0.0018	0.0059	0	0.0005	0.0139	0.0017	0.0034	0.0155	0.0019	0.0019	0.0018	0.0021	0.0157	0.0017	0.0017	0.0129	0.0118	0.0003	0.0154	0.0016	0.0049	0	0.0004	0.0068	0.0020	0.0033	0.0157	0.656	0.04757	T	0.173	0.30926	T	0.153	0.28093	B	0.046	0.24676	B	0.056906	0.22522	U	0.383809	0.791671	0.34394	D	-0.315	0.03579	N	0.18	0.60361	T	0.06	0.07444	N	0.253	0.30574	-1.0182	0.24301	T	0.071	0.28839	T	10	0.015201479	0.00319	T	0.067794	0.70268	D	0.115	0.32236	0.458	0.52427	0.524114710501	0.52058	0.24345535029889892	0.24259	0.615439663432	0.56025	0.431416332722	0.29402	T	0.010579	0.09538	T	-0.151241	0.28116	T	-0.455024	0.27144	T	0.846595525741577	0.49875	D	0.939106	0.77081	D	0.046599776	0.07827	0.04282447	0.05189	0.046599776	0.07827	0.04282447	0.05189	-7.067	0.54522	T	.	.	0.070	0.05535	B	.;.;.	.;.;.	4.219439	0.63804	24.6	0.98661567374471526	0.44345	0.70643	0.34675	D	AEFBI	0.216493	0.34173	N	-0.384201033348936	0.26032	1.417627	-0.30350875060374	0.27986	1.556885	0.00216984613625388	0.09203	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	3.25	2.33	0.27981	4.335000	0.59081	5.393000	0.48489	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.2674:0.0:0.7326:0.0	5.737	0.17339	779	0.47767	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3955.14	34	chr9	133568440	.	G	A	3955.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.21;DP=769;ExcessHet=0.2348;FS=2.774;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.749;SOR=0.554	GT:AD:DP:GQ:PL	0/1:91,74:165:99:1758,0,2117	8	0	2	0
chr9	135778444	135778444	A	G	exonic	KCNT1	.	nonsynonymous SNV	KCNT1:NM_001272003:exon21:c.A2408G:p.E803G,KCNT1:NM_020822:exon22:c.A2543G:p.E848G	Epilepsy, nocturnal frontal lobe, 5, Autosomal dominant;Epileptic encephalopathy, early infantile, 14, Autosomal dominant	9	1508	5	0	0	5	0.00165508	.	.	.	134804	Developmental_and_epileptic_encephalopathy,_14|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5|not_provided|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0013989,MedGen:C3554195,OMIM:614959,Orphanet:293181|MONDO:MONDO:0014002,MedGen:C3554306,OMIM:615005,Orphanet:98784|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.783	0.523026545111	0.0022	0.00119808	0.0016	0.0004	0.0024	0	0	0.0028	0	0.0008	0.0011643	180	154602	rs149804567	0.0030	0.0029	0.0031	0.0029	0.0077	0.0029	0.0029	0.0059	0.0053	0.0006	0.0041	0.0002	0	0.0008	0.0077	0.0034	0.0031	0.0008	0.0023	0.0023	0.0022	0.0024	0.0044	0.0021	0.0020	0.0036	0.0033	0.0006	0.0011	0.0044	0.0003	0	0.0010	0.0102	0.0035	0.0024	0.0010	0.001	0.78490	D	0.006	0.70582	D	0.864	0.47514	P	0.437	0.45591	B	0.000000	0.84330	U	0.000000	1	0.81001	D	2.255	0.64187	M	-1.17	0.78199	T	-6.34	0.90937	D	0.694	0.70351	0.067	0.83563	D	0.457	0.78877	T	10	0.021965742	0.00537	T	0.523027	0.95475	D	0.783	0.92787	.	.	0.862925295636	0.86159	0.9382602385644435	0.93807	1.09044902696	0.77412	0.687397241592	0.65332	T	0.310908	0.68283	T	0.0329264	0.56114	T	0.276439	0.86929	D	0.0289352975995204	0.01827	T	0.958604	0.84374	D	0.48417372	0.66153	0.6271475	0.78261	0.6860348	0.77297	0.65704966	0.79918	-9.882	0.73732	D	0.6600228610296959	0.73337	0.660	0.74697	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.873173	0.79859	27.2	0.9991844980658271	0.98586	0.97451	0.74834	D	AEFDBI	0.904012	0.85379	D	0.576795481824302	0.71729	5.69525	0.557929126426649	0.71950	5.733673	0.999998898392798	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.69	4.69	0.58546	9.003000	0.93114	9.087000	0.78733	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	14.162	0.64988	539	0.73055	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.008065	0.021505	0.005848	0.009317	0.000000	0.027778	0.000000	0.003937	0.05	922.43	34	chr9	135778444	.	A	G	922.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=385;ExcessHet=0;FS=1.894;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-1.495;SOR=0.874	GT:AD:DP:GQ:PL	0/1:37,38:75:99:934,0,826	9	0	1	0
chr9	135862569	135862569	G	A	exonic	CAMSAP1	.	nonsynonymous SNV	CAMSAP1:NM_015447:exon5:c.C706T:p.P236S	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.537579459794	.	0.000998403	0.0017	0	0	0	0	0.0035	0	0.0009	0.000925	143	154602	rs77279694	0.0033	0.0032	0.0034	0.0032	0.0039	0.0032	0.0032	0.0038	0.0038	0.0006	0.0020	0.0002	0	0.0007	0.0033	0.0039	0.0031	0.0008	0.0024	0.0024	0.0025	0.0023	0.0041	0.0022	0.0021	0.0037	0.0036	0.0005	0.0011	0.0021	0.0003	0	0.0009	0.0068	0.0041	0.0052	0.0006	0.004	0.68238	D	0.014	0.62352	D	1.0	0.90584	D	1.0	0.97372	D	0.000007	0.62929	U	0.065733	0.999998	0.81001	D	2.88	0.83451	M	-3.57	0.94904	D	-6.4	0.91184	D	0.648	0.65930	0.840	0.94901	D	0.861	0.95383	D	10	0.018229902	0.00395	T	0.537579	0.95679	D	0.517	0.79400	.	.	0.802827152195	0.80098	0.6971995334483692	0.69660	0.520938504507	0.49879	0.501556098461	0.39045	T	0.501654	0.82177	D	0.0531347	0.58744	T	0.306855	0.88510	D	0.0435997062277248	0.04348	T	0.973503	0.90460	D	0.49917537	0.67047	0.53853124	0.73331	0.49917537	0.67048	0.53853124	0.73331	-6.869	0.53070	T	.	.	0.101	0.19194	B	.;.	.;.	4.277687	0.65141	24.8	0.99928514940924595	0.99222	0.99507	0.96863	D	AEFGBI	0.828226	0.74736	D	0.728707798225939	0.81514	7.540181	0.672406595711713	0.80287	7.265967	0.999999999999727	0.74766	0.706298	0.61202	0	0.615513	0.52658	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.0	5.0	0.66209	9.070000	0.93390	11.707000	0.94592	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	18.636	0.91332	900	0.24599	Calmodulin-regulated spectrin-associated protein, CH domain|Calponin homology 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	0.003614	0.010526	0.000000	0.000000	0.000000	0.035714	0.000000	0.000000	0.05	1224.43	34	chr9	135862569	.	G	A	1224.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.38;DP=426;ExcessHet=0;FS=0.737;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-0.519;SOR=0.61	GT:AD:DP:GQ:PL	0/1:50,52:102:99:1236,0,1197	9	0	1	0
chr9	136837582	136837582	C	T	exonic	RABL6	.	nonsynonymous SNV	RABL6:NM_001173988:exon9:c.C1049T:p.S350L,RABL6:NM_024718:exon9:c.C1046T:p.S349L	.	1	1520	1	0	0	1	0.000328839	.	.	.	2288907	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.0598080362457	.	.	6.189e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs747000484	3.627e-05	3.694e-05	3.874e-05	3.376e-05	0.0017	2.816e-05	2.55e-05	0.0009	0.0006	6.053e-05	0	0	0	0	0.0017	3.27e-05	0.0001	0	3.286e-05	3.283e-05	5.139e-05	1.345e-05	0.0001	1.261e-05	7.98e-06	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	4.411e-05	0	0	0.275	0.68238	T	0.083	0.50226	T	0.0	0.02946	B	0.001	0.04355	B	0.897091	0.07332	U	1.073890	1	0.08975	N	1.1	0.28011	L	-0.17	0.65563	T	-2.43	0.53258	N	0.15	0.16447	-0.9976	0.30590	T	0.142	0.46367	T	10	0.08696014	0.14832	T	0.059808	0.67788	D	0.063	0.18251	0.199	0.11247	0.117191471859	0.11215	0.1630423553228202	0.16224	0.00769776987941	0.00687	0.546117126942	0.45309	T	0.046378	0.27407	T	-0.209683	0.19424	T	-0.538971	0.18397	T	0.0752077400684357	0.09364	T	0.678032	0.32570	T	0.04465022	0.07173	0.05811588	0.10685	0.04465022	0.07172	0.05811588	0.10684	-5.338	0.40318	T	.	.	0.083	0.19639	B	.;.;.;.	.;.;.;.	1.054944	0.14362	10.94	0.99631418712139408	0.76081	0.24254	0.22336	N	AEFGBCI	0.159780	0.28563	N	-0.799265267380252	0.13329	0.6558697	-0.801099275902812	0.14470	0.7561523	0.998462153399687	0.37014	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.57	1.59	0.22622	2.128000	0.41668	0.498000	0.18967	-0.569000	0.04791	0.023000	0.19925	0.002000	0.18203	0.018000	0.11154	0.2189:0.5149:0.0:0.2662	2.824	0.05143	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	.	.	.	.	.	.	.	.	0.05	672.43	68	chr9	136837582	.	C	T	672.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.242;DP=570;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.74;MQRankSum=1.17;QD=8.3;ReadPosRankSum=0.841;SOR=0.734	GT:AD:DP:GQ:PL	0/1:49,32:81:99:684,0,1214	9	0	1	0
chr10	4972268	4972268	T	A	exonic	AKR1C1	.	nonsynonymous SNV	AKR1C1:NM_001353:exon6:c.T638A:p.L213Q	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.00171363412539	7.7e-05	.	0.0002	0	0.0004	0	0.0002	0.0002	0	0.0003	0.0001423	22	154602	rs372782197	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	0.0004	0.0004	0	0	5.616e-05	0.0014	0.0001	0.0004	0.0003	0.0001	0.0001	9.006e-05	0.0001	0.0003	7.103e-05	5.757e-05	0.0001	8.298e-05	2.421e-05	0	0.0003	0	0	0.0002	0.0032	0.0001	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.004411	0.33773	N	0.127854	0.999997	0.08975	N	2.665	0.77964	M	1.6	0.28604	T	-5.51	0.85921	D	0.662	0.67132	-0.9843	0.33998	T	0.139	0.45791	T	10	0.5717906	0.65360	D	0.001714	0.02856	T	0.308	0.62947	.	.	0.137902524267	0.13322	0.7754827002343527	0.77498	2.80813242872	0.98930	.	.	.	0.175249	0.52476	T	-0.145783	0.28975	T	-0.113033	0.62368	T	0.37340971827507	0.27929	T	0.957904	0.84151	D	0.9425072	0.95503	0.8330148	0.90382	0.9425072	0.95503	0.8330148	0.90382	-13.237	0.90315	D	.	.	0.751	0.75080	P	.	.	3.987661	0.58662	24.0	0.98926451334213361	0.48657	0.38961	0.26106	N	AEFGI	0.748013	0.68989	D	-0.281369143546472	0.29867	1.660203	-0.44414039954556	0.23715	1.294763	0.999932560873715	0.46732	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	1.8	1.8	0.24069	6.796000	0.74931	4.596000	0.43977	0.496000	0.22519	0.883000	0.31049	0.837000	0.27266	0.967000	0.53440	0.0:0.0:0.0:1.0	7.586	0.27161	982	0.03397	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase 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	0.003178	0.000000	0.006793	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1234.43	45	chr10	4972268	.	T	A	1234.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.896;DP=472;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=51.32;MQRankSum=-1.272;QD=8.82;ReadPosRankSum=1.22;SOR=0.719	GT:AD:DP:GQ:PL	0/1:78,62:140:99:1246,0,1840	9	0	1	0
chr10	5746410	5746410	G	A	exonic	TASOR2	.	nonsynonymous SNV	TASOR2:NM_001321785:exon15:c.G2746A:p.G916S,TASOR2:NM_017782:exon15:c.G2989A:p.G997S,TASOR2:NM_001321783:exon16:c.G2989A:p.G997S,TASOR2:NM_001321784:exon16:c.G2989A:p.G997S	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	.	0.0036	0.00179712	0.0042	0.0005	0.0013	0.0001	0.0222	0.0049	0.0044	0.0007	0.0038551	596	154602	rs184954504	0.0037	0.0037	0.0037	0.0037	0.0027	0.0036	0.0036	0.0026	0.0026	0.0007	0.0015	0.0297	0.0001	0.0218	0.0016	0.0027	0.0052	0.0008	0.0040	0.0040	0.0034	0.0046	0.0034	0.0038	0.0036	0.0030	0.0029	0.0006	0	0.0018	0.0300	0.0002	0.0201	0.0068	0.0034	0.0028	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.044175	0.23665	N	0.410909	1	0.08975	N	-1.79	0.00298	N	-4.17	0.96855	D	1.52	0.00719	N	0.049	0.02088	-0.2388	0.76657	T	0.372	0.73076	T	10	0.0034108162	0.00060	T	.	.	.	0.211	0.50185	.	.	0.151262610727	0.14761	0.1295867700900733	0.12883	0.0431978750673	0.04656	0.289348304272	0.08827	T	7.31E-4	0.00340	T	-0.389453	0.02712	T	-0.328612	0.41624	T	0.000257242264318701	0.00002	T	0.258674	0.04115	T	0.026026564	0.01609	0.033823755	0.02343	0.026026564	0.01608	0.033823755	0.02343	-2.175	0.03921	T	.	.	0.066	0.04599	B	.;.	.;.	-0.885147	0.00951	0.037	0.65477199789139873	0.07784	0.01384	0.04710	N	AEFDBCI	0.014200	0.00216	N	-1.94785901455332	0.00273	0.01171553	-1.8482407442201	0.00617	0.02740584	0.250523101359692	0.18675	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	-2.93	0.05261	-0.072000	0.11446	0.150000	0.15280	-0.655000	0.04372	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.415:0.2735:0.3115:0.0	5.302	0.15091	552	0.72024	Protein of unknown function DUF3715;Protein of unknown function DUF3715	.	.	.	.	.	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	0.050000	0.000000	0.003049	0.000000	0.05	2015.43	65	chr10	5746410	.	G	A	2015.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.2;DP=590;ExcessHet=0;FS=2.727;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-0.882;SOR=0.941	GT:AD:DP:GQ:PL	0/1:94,74:168:99:2027,0,2191	9	0	1	0
chr10	5977813	5977813	C	T	exonic	IL15RA	.	nonsynonymous SNV	IL15RA:NM_001351095:exon2:c.G226A:p.E76K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.839e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.573e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	165.68	10	chr10	5977813	.	C	T	165.68	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=75;ExcessHet=0;FS=0;InbreedingCoeff=-0.0719;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=0.935;SOR=0.693	GT:AD:DP:GQ:PL	0/1:6,6:12:99:177,0,142	9	0	1	0
chr10	17849602	17849602	C	G	exonic	MRC1	.	nonsynonymous SNV	MRC1:NM_002438:exon7:c.C1087G:p.P363A	.	430	1020	63	9	0	81	0.0381895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	.	0.0021	0.00479233	0.0094	0.0021	0.0031	0.0003	0.0014	0.0055	0.0168	0.0411	0.0078848	1219	154602	rs200175375	0.0082	0.0082	0.0061	0.0100	0.0385	0.0080	0.0079	0.0373	0.0368	0.0010	0.0035	0.0173	8.318e-05	0.0023	0.0159	0.0042	0.0084	0.0385	0.0045	0.0046	0.0042	0.0049	0.0347	0.0042	0.0041	0.0304	0.0288	0.0008	0.0658	0.0048	0.0176	0.0004	0.0014	0.0102	0.0039	0.0038	0.0347	0.01	0.56456	D	0.028	0.54934	D	0.936	0.52359	P	0.459	0.46380	P	0.000037	0.55875	U	0.000000	0.992972	0.41798	D	2.335	0.66956	M	1.71	0.26737	T	-4.38	0.77143	D	0.435	0.47395	-1.0788	0.07582	T	0.036	0.15726	T	10	0.0075841844	0.00172	T	.	.	.	.	.	.	.	0.319322697148	0.31537	0.5703013650427744	0.56958	.	.	0.556212007999	0.46733	T	0.426274	0.77612	T	-0.221424	0.17798	T	-0.555837	0.16769	T	0.868999540805817	0.51894	D	0.687331	0.29630	T	0.47543982	0.65622	0.26726636	0.52582	0.47543982	0.65623	0.26726636	0.52581	-6.71	0.51886	T	.	.	0.110	0.21353	B	.	.	3.894076	0.56683	23.8	0.95123332018983231	0.26223	0.97998	0.78750	D	AEFI	0.535084	0.55386	D	-0.00417378166605131	0.41667	2.496327	0.00753955804719451	0.40063	2.385124	1.55333678872863E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.35	3.4	0.38031	4.786000	0.62117	6.017000	0.52736	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.8332:0.1667:0.0	12.540	0.55508	928	0.17405	C-type lectin-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	0.013670	0.000000	0.011080	0.010638	0.000000	0.008772	0.021875	0.030769	0.1	1041.14	33	chr10	17849602	.	C	G	1041.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.387;DP=346;ExcessHet=0.2348;FS=0.822;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.17;SOR=0.804	GT:AD:DP:GQ:PL	0/1:22,23:45:99:566,0,521	8	0	2	0
chr10	27940706	27940706	G	T	exonic	ARMC4	.	nonsynonymous SNV	ARMC4:NM_001290021:exon6:c.C418A:p.L140M,ARMC4:NM_001312689:exon8:c.C919A:p.L307M,ARMC4:NM_001290020:exon13:c.C1843A:p.L615M,ARMC4:NM_018076:exon13:c.C1843A:p.L615M	Ciliary dyskinesia, primary, 23, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.495	0.0759874371258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999969	0.52935	D	3.03	0.86425	M	-0.31	0.68030	T	-1.84	0.43149	N	0.792	0.78832	-0.0783	0.80591	T	0.497	0.80946	T	10	0.8093863	0.80240	D	0.075987	0.72423	D	0.495	0.78036	0.489	0.57415	0.724081930085	0.72164	0.43833571760433687	0.43750	0.553721136388	0.52132	0.740363359451	0.73027	T	0.148664	0.48732	T	0.130514	0.67412	D	-0.050302	0.67003	D	0.95476233959198	0.64343	D	0.956104	0.83363	D	0.3338862	0.55787	0.2978197	0.55816	0.3338862	0.55787	0.2978197	0.55815	-13.214	0.90224	D	.	.	0.705	0.73169	P	.	.	3.377948	0.46710	22.3	0.99548020717274066	0.70961	0.95128	0.63540	D	AEFI	0.478296	0.52092	N	0.383007210855026	0.60500	4.23969	0.207082824283973	0.50240	3.218135	2.50245455875285E-4	0.06141	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	4.83	2.97	0.33479	2.734000	0.47041	3.282000	0.37238	0.671000	0.69459	0.998000	0.41325	1.000000	0.68203	0.310000	0.24737	0.2379:0.0:0.7621:0.0	8.524	0.32456	755	0.51144	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1715.43	34	chr10	27940706	.	G	T	1715.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.171;DP=505;ExcessHet=0;FS=2.661;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=0.428;SOR=0.503	GT:AD:DP:GQ:PL	0/1:104,75:179:99:1727,0,2697	9	0	1	0
chr10	34317230	34317230	T	C	exonic	PARD3	.	nonsynonymous SNV	PARD3:NM_001184791:exon17:c.A2726G:p.K909R,PARD3:NM_001184790:exon18:c.A2681G:p.K894R,PARD3:NM_001184786:exon19:c.A2903G:p.K968R,PARD3:NM_001184788:exon19:c.A2813G:p.K938R,PARD3:NM_001184789:exon19:c.A2813G:p.K938R,PARD3:NM_001184794:exon19:c.A2813G:p.K938R,PARD3:NM_001184785:exon20:c.A2942G:p.K981R,PARD3:NM_001184787:exon20:c.A2951G:p.K984R,PARD3:NM_001184792:exon20:c.A2942G:p.K981R,PARD3:NM_001184793:exon20:c.A2849G:p.K950R,PARD3:NM_019619:exon20:c.A2951G:p.K984R	.	429	1084	9	0	0	9	0.00413413	.	.	.	3206031	PARD3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00537531025545	.	0.000599042	0.0008	0	0	0	0	0.0002	0	0.0047	0.0006274	97	154602	rs200130312	0.0005	0.0005	0.0003	0.0006	0.0052	0.0004	0.0004	0.0048	0.0047	2.987e-05	0.0001	3.826e-05	0	0	0.0024	0.0002	0.0005	0.0052	0.0003	0.0003	0.0002	0.0004	0.0044	0.0002	0.0002	0.0029	0.0025	0	0	0.0006	0	0	0	0	0.0002	0	0.0044	0.439	0.15613	T	0.229	0.41405	T	0.001	0.14184	B	0.004	0.15521	B	0.014598	0.28488	N	0.404642	0.557243	0.32183	D	0.315	0.10303	N	1.45	0.32482	T	-1.24	0.33197	N	0.146	0.14763	-1.0451	0.15796	T	0.055	0.23375	T	10	0.0043361783	0.00088	T	0.005375	0.13771	T	0.031	0.07369	0.325	0.30711	0.306606720791	0.30265	0.0394300521374119	0.03889	0.0698374760876	0.07817	0.320736885071	0.13533	T	0.215996	0.57804	T	-0.622963	0.00105	T	-0.666666	0.07823	T	0.0116788487424321	0.00179	T	0.857714	0.56927	D	0.047509383	0.08131	0.049264885	0.07493	0.040747296	0.05873	0.04566475	0.06193	-3.607	0.29435	T	.	.	0.078	0.07036	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.168555	0.27635	17.53	0.98762351355122246	0.45831	0.90862	0.52401	D	AEFBI	0.402359	0.47648	N	-0.391060253620372	0.25787	1.402419	-0.280967106806349	0.28725	1.603851	0.883927345974525	0.25684	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.77	0.801	0.17822	2.202000	0.42377	0.863000	0.22246	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.3325:0.0:0.6675	8.232	0.30765	946	0.12043	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.003627	0.000000	0.000000	0.000000	0.000000	0.017241	0.012195	0.007576	0.1	1529.14	33	chr10	34317230	.	T	C	1529.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.668;DP=391;ExcessHet=0.2348;FS=4.433;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.586;SOR=0.704	GT:AD:DP:GQ:PL	0/1:29,31:60:99:734,0,779	8	0	2	0
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	.	.	.	.	.	.	.	.	0.2222	564.7	40	chr10	50104144	.	G	A	564.7	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-2.768;DP=636;ExcessHet=1.5895;FS=154.041;InbreedingCoeff=-0.3296;MLEAC=4;MLEAF=0.222;MQ=55.49;MQRankSum=0.493;QD=2.05;ReadPosRankSum=1.02;SOR=9.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,32:105:99:0|1:50104141_G_C:221,0,2539:50104141	5	0	4	1
chr10	63193436	63193436	C	T	exonic	JMJD1C	.	nonsynonymous SNV	JMJD1C:NM_001322254:exon13:c.G5114A:p.R1705K,JMJD1C:NM_001282948:exon14:c.G5225A:p.R1742K,JMJD1C:NM_001318153:exon14:c.G4907A:p.R1636K,JMJD1C:NM_001322252:exon14:c.G5657A:p.R1886K,JMJD1C:NM_001322258:exon14:c.G5114A:p.R1705K,JMJD1C:NM_001318154:exon15:c.G5225A:p.R1742K,JMJD1C:NM_032776:exon15:c.G5771A:p.R1924K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.0103519465959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.164	0.33109	T	0.925	0.51395	P	0.621	0.51426	P	0.000000	0.84330	D	0.000000	0.999922	0.81001	D	1.725	0.44537	L	0.56	0.54540	T	-2.57	0.55501	D	0.356	0.39760	-0.4464	0.70519	T	0.332	0.69935	T	10	0.8936583	0.88715	D	0.010352	0.26785	T	0.249	0.55752	0.84	0.94602	0.637017390676	0.63403	0.7928774722484048	0.79240	0.157621600058	0.17795	0.536825060844	0.43998	T	0.369895	0.73453	T	0.0292193	0.55619	T	-0.195805	0.55043	T	0.928609490394592	0.59215	D	0.849815	0.53298	T	0.5190003	0.68202	0.3568274	0.61187	0.5190003	0.68203	0.3568274	0.61187	-8.458	0.64151	D	0.4325882270323829	0.51947	0.294	0.54926	B	.;.;.	.;.;.	3.767638	0.54096	23.4	0.99658260750988326	0.77757	0.97954	0.78397	D	AEFBI	0.316037	0.42044	N	0.587792555338336	0.72411	5.801647	0.602663240004817	0.75131	6.256968	0.99996447195834	0.48965	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.57	5.57	0.84021	3.948000	0.56369	5.965000	0.51894	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	19.134	0.93405	594	0.68584	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	889.43	37	chr10	63193436	.	C	T	889.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.37;DP=422;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=-1.223;SOR=0.621	GT:AD:DP:GQ:PL	0/1:52,43:95:99:901,0,1282	9	0	1	0
chr10	68644932	68644932	A	G	exonic	TET1	.	nonsynonymous SNV	TET1:NM_030625:exon4:c.A2203G:p.K735E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0061485135252	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1418521511	2.055e-06	2.052e-06	1.363e-06	2.755e-06	.	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	0	4.977e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.712	0.05488	T	0.666	0.41077	P	0.115	0.31843	B	0.457346	0.12434	N	0.761165	0.993776	0.23650	N	2.015	0.55033	M	3.21	0.07125	T	-0.73	0.20576	N	0.22	0.24634	-0.9891	0.32828	T	0.015	0.06042	T	10	0.08990869	0.15617	T	0.006149	0.16111	T	0.047	0.12962	0.165	0.06955	0.043077524339	0.03247	0.1005632408179631	0.09987	0.104334685682	0.11803	0.288307011127	0.08676	T	0.06778	0.33288	T	-0.22481	0.17341	T	-0.560701	0.16311	T	0.279981583759351	0.24171	T	0.683732	0.29211	T	0.117316924	0.27659	0.12035576	0.29047	0.117316924	0.27659	0.12035576	0.29046	-3.726	0.19703	T	.	.	0.121	0.25100	B	.	.	2.091889	0.26608	17.18	0.9971201475374849	0.81423	0.95558	0.65200	D	AEFBI	0.213432	0.33902	N	-0.037072856363829	0.40182	2.381955	0.0936287730590797	0.44228	2.708578	0.0436077642515675	0.14577	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.93	4.79	0.60909	2.138000	0.41764	6.112000	0.53677	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.704:0.296:0.0:0.0	11.861	0.51742	645	0.63593	.	.	.	.	.	.	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	0.003049	0.000000	0.05	1406.43	33	chr10	68644932	.	A	G	1406.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.578;DP=460;ExcessHet=0;FS=1.348;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-0.777;SOR=0.849	GT:AD:DP:GQ:PL	0/1:80,60:140:99:1418,0,2170	9	0	1	0
chr10	69902853	69902853	C	T	exonic	COL13A1	.	nonsynonymous SNV	COL13A1:NM_001368896:exon11:c.C715T:p.P239S,COL13A1:NM_001368898:exon11:c.C715T:p.P239S,COL13A1:NM_080798:exon11:c.C715T:p.P239S,COL13A1:NM_001368895:exon12:c.C766T:p.P256S,COL13A1:NM_001368897:exon12:c.C742T:p.P248S,COL13A1:NM_080805:exon12:c.C733T:p.P245S,COL13A1:NM_001368883:exon14:c.C820T:p.P274S,COL13A1:NM_001368885:exon14:c.C820T:p.P274S,COL13A1:NM_001368886:exon14:c.C256T:p.P86S,COL13A1:NM_080800:exon14:c.C829T:p.P277S,COL13A1:NM_080801:exon14:c.C820T:p.P274S,COL13A1:NM_080802:exon14:c.C820T:p.P274S,COL13A1:NM_001130103:exon15:c.C886T:p.P296S,COL13A1:NM_001320951:exon15:c.C856T:p.P286S,COL13A1:NM_001368882:exon15:c.C856T:p.P286S,COL13A1:NM_001368884:exon15:c.C856T:p.P286S	Myasthenic syndrome, congenital, 19, Autosomal recessive	410	1109	3	0	0	3	0.00135074	0.6511	0.512	.	1354379	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.581	0.17108564087	.	0.000599042	0.0003	0	0.0085	0	0	0.0003	0	0	0.0001488	23	154602	rs184176702	9.764e-05	9.645e-05	8.021e-05	0.0001	0.0005	8.404e-05	7.845e-05	0.0003	0.0002	0	0.0005	0.0017	0	0	0	4.511e-05	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	9.23e-05	0.0002	0.0002	0	0	0.0005	0.0026	0	0	0.0034	8.818e-05	0.0005	0	0.049	0.50676	D	0.023	0.66756	D	0.992	0.73220	D	0.88	0.82059	P	0.000000	0.84330	D	0.000000	0.999617	0.47849	D	1.685	0.43254	L	-4.2	0.96934	D	-2.69	0.63438	D	0.287	0.33687	0.882	0.95432	D	0.901	0.96705	D	10	0.022779047	0.00578	T	0.171086	0.84846	D	0.581	0.83137	.	.	0.888760345717	0.88766	0.43054967111602366	0.42971	0.139645380596	0.15743	0.568360745907	0.48446	T	0.770588	0.93856	D	-0.0189625	0.49002	T	0.0311775	0.72355	D	0.148122345456719	0.16953	T	0.747925	0.42806	T	0.19840366	0.41742	0.20575887	0.44759	0.19840366	0.41741	0.20575887	0.44758	-9.69	0.73437	D	.	.	0.110	0.24226	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.546154	0.49826	22.8	0.99239951645861224	0.56501	0.82209	0.41472	D	AEFDBI	0.474337	0.51864	N	0.549484730053674	0.70051	5.445034	0.516976025031981	0.69130	5.31694	0.999999877350873	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.93	5.93	0.95888	2.081000	0.41220	.	.	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.082000	0.17360	0.0:0.8698:0.1302:0.0	16.560	0.84386	769	0.49307	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	499.43	37	chr10	69902853	.	C	T	499.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.98;DP=356;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.34;SOR=0.709	GT:AD:DP:GQ:PL	0/1:22,20:42:99:511,0,533	9	0	1	0
chr10	70255429	70255429	A	G	exonic	NPFFR1	.	nonsynonymous SNV	NPFFR1:NM_022146:exon4:c.T821C:p.M274T	.	411	1107	4	0	0	4	0.00180343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.059454184215	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs772783728	1.721e-05	1.71e-05	1.557e-05	1.889e-05	1.854e-05	1.164e-05	9.78e-06	1.211e-05	9.84e-06	0	0	0	0	4.455e-05	0	1.854e-05	3.45e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.10311	T	0.298	0.20486	T	0.383	0.34425	B	0.079	0.28749	B	0.045362	0.23544	N	0.477077	0.974515	0.39111	D	0.025	0.08010	N	1.27	0.36146	T	-2.21	0.49684	N	0.21	0.23380	-1.0503	0.14313	T	0.034	0.14509	T	10	0.21100053	0.37514	T	0.059454	0.67669	D	0.099	0.28413	0.674	0.81200	0.657652052346	0.65479	0.6171997521323965	0.61651	1.29084444444	0.82783	0.845410585403	0.88920	D	0.020082	0.15875	T	-0.272608	0.11467	T	-0.514405	0.20862	T	0.147578567266464	0.16910	T	0.667933	0.27701	T	0.19320834	0.41021	0.16491699	0.38179	0.19320834	0.41021	0.16491699	0.38178	-3.004	0.10224	T	.	.	0.106	0.19598	B	.	.	2.267755	0.28984	17.98	0.82825914995901062	0.14395	0.94493	0.61343	D	AEFDBHCIJ	0.508173	0.53817	D	-0.223037467558538	0.32188	1.812734	-0.0354883504933418	0.38123	2.241708	0.9999999737848	0.74766	0.648878	0.45929	0	0.616487	0.53143	0	0.596394	0.31383	0	0.526665	0.08891	0	.	.	4.86	3.71	0.41733	4.967000	0.63433	2.676000	0.33982	0.756000	0.94297	0.997000	0.40164	0.211000	0.23643	0.954000	0.50415	0.9148:0.0:0.0852:0.0	9.741	0.39587	419	0.81524	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	.	.	.	.	.	.	.	.	0.05	2149.43	33	chr10	70255429	.	A	G	2149.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.88;DP=577;ExcessHet=0;FS=4.024;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-0.9;SOR=0.895	GT:AD:DP:GQ:PL	0/1:104,94:198:99:2161,0,2670	9	0	1	0
chr10	75029035	75029035	G	A	exonic	KAT6B	.	nonsynonymous SNV	KAT6B:NM_001370135:exon10:c.G1868A:p.R623H,KAT6B:NM_001370133:exon11:c.G2522A:p.R841H,KAT6B:NM_001370134:exon12:c.G2126A:p.R709H,KAT6B:NM_001370143:exon15:c.G3146A:p.R1049H,KAT6B:NM_001370144:exon16:c.G3146A:p.R1049H,KAT6B:NM_001370132:exon17:c.G3173A:p.R1058H,KAT6B:NM_001370141:exon17:c.G3335A:p.R1112H,KAT6B:NM_001370142:exon17:c.G3335A:p.R1112H,KAT6B:NM_001256468:exon18:c.G3662A:p.R1221H,KAT6B:NM_001256469:exon18:c.G3335A:p.R1112H,KAT6B:NM_001370136:exon18:c.G4211A:p.R1404H,KAT6B:NM_001370137:exon18:c.G4211A:p.R1404H,KAT6B:NM_001370138:exon18:c.G3662A:p.R1221H,KAT6B:NM_001370139:exon18:c.G3335A:p.R1112H,KAT6B:NM_001370140:exon18:c.G3335A:p.R1112H,KAT6B:NM_012330:exon18:c.G4211A:p.R1404H	Genitopatellar syndrome, Autosomal dominant;SBBYSS syndrome	.	.	.	.	.	.	.	.	.	.	1184406	Genitopatellar_syndrome|Inborn_genetic_diseases|KAT6B-related_disorder|Blepharophimosis_-_intellectual_disability_syndrome,_SBBYS_type|not_provided	MONDO:MONDO:0011640,MedGen:C1853566,OMIM:606170,Orphanet:85201|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0011365,MedGen:C1863557,OMIM:603736,Orphanet:3047|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.131	0.018293983826	.	.	0.0002	0	0.0002	0	0	0.0002	0	0.0005	0.0002458	38	154602	rs563033366	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	5.974e-05	0.0001	3.826e-05	0	0	0.0002	0.0004	0.0004	0.0003	0.0002	0.0002	0.0003	0.0001	0.0004	0.0002	0.0001	0.0003	0.0002	7.227e-05	0	0	0	0	0	0	0.0004	0.0005	0.0002	0.832	0.03555	T	0.118	0.36233	T	0.0	0.02946	B	0.0	0.01387	B	0.255459	0.03674	N	1.550470	1	0.08975	N	-1.155	0.00891	N	-1.03	0.76561	T	1.38	0.01011	N	0.074	0.04790	-0.9147	0.46259	T	0.192	0.54448	T	10	0.018147588	0.00392	T	0.018294	0.40304	T	0.131	0.35738	.	.	0.171220215726	0.16700	0.02025162819760322	0.01978	0.242065103099	0.26720	0.19667583704	0.00367	T	0.050504	0.28615	T	-0.46996	0.00850	T	-0.594768	0.13255	T	0.0154008298851443	0.00344	T	.	.	.	0.00914532	0.00002	0.018084703	0.00046	0.00914532	0.00002	0.018084703	0.00046	-2.956	0.10464	T	.	.	0.055	0.01367	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-1.067980	0.00680	0.019	0.704473713444142	0.09299	0.03526	0.08713	N	AEFDBI	0.055132	0.10085	N	-1.51786400617653	0.01732	0.07582887	-1.59187382372277	0.01704	0.07745942	0.99998961018287	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.8	-7.29	0.01303	-0.778000	0.04770	-7.546000	0.01134	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.867000	0.41218	0.5224:0.2938:0.1838:0.0	8.635	0.33103	23	0.98420	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1086.43	33	chr10	75029035	.	G	A	1086.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.31;DP=446;ExcessHet=0;FS=1.55;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-1.004;SOR=0.856	GT:AD:DP:GQ:PL	0/1:62,45:107:99:1098,0,1395	9	0	1	0
chr10	79849996	79849996	C	T	exonic	NUTM2E	.	nonsynonymous SNV	NUTM2E:NM_001355263:exon10:c.C2027T:p.T676M	.	655	797	60	10	0	80	0.0477897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00752286326415	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1283256334	0.0013	0.0083	0.0011	0.0015	0.0100	0.0012	0.0012	0.0090	0.0087	0.0013	0.0044	0.0013	0.0100	0.0010	0.0015	0.0007	0.0017	0.0018	0.0010	0.0073	0.0010	0.0011	0.0016	0.0008	0.0008	0.0012	0.0011	0.0016	0	0.0009	0.0005	0.0016	0.0002	0	0.0008	0	0.0010	0.906	0.02389	T	0.483	0.11795	T	.	.	.	.	.	.	0.049797	0.02003	N	2.004150	1	0.08975	N	.	.	.	2.81	0.10975	T	0.09	0.05917	N	0.059	0.03069	-0.9915	0.32218	T	0.014	0.05417	T	7	0.053594023	0.05576	T	0.007523	0.19952	T	0.003	0.00094	0.144	0.04746	0.107399877778	0.10242	0.08661387145835503	0.08595	.	.	.	.	.	0.00283	0.02227	T	-0.43608	0.01364	T	-0.864175	0.00799	T	0.0317004563033394	0.02258	T	0.430757	0.11694	T	0.012236715	0.00030	0.025865948	0.00648	0.012236715	0.00030	0.025865948	0.00647	-5.039	0.37261	T	.	.	0.077	0.06479	B	.	.	-0.445032	0.02050	0.187	0.13272315138501015	0.00256	0.00045	0.00362	N	AEFI	0.014412	0.00228	N	-1.34859579757259	0.03140	0.1397655	-1.57937064157927	0.01781	0.08108524	5.67193482380288E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.844	-1.69	0.07747	-3.458000	0.00516	-20.000000	0.00162	-1.652000	0.00824	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3413:0.0:0.6587	5.420	0.15696	729	0.54495	Nuclear Testis  protein, 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	.	.	.	.	.	.	.	.	0.07143	45.65	34	chr10	79849996	.	C	T	45.65	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=269;ExcessHet=0;FS=4.696;MLEAC=1;MLEAF=0.071;MQ=32.79;MQRankSum=-1.252;QD=1.9;ReadPosRankSum=-0.931;SOR=1.802	GT:AD:DP:GQ:PL	0/1:20,4:24:55:55,0,507	6	0	1	3
chr10	86679436	86679436	G	A	exonic	LDB3	.	nonsynonymous SNV	LDB3:NM_001080116:exon2:c.G163A:p.V55I,LDB3:NM_001080114:exon3:c.G163A:p.V55I,LDB3:NM_001080115:exon3:c.G163A:p.V55I,LDB3:NM_001171610:exon3:c.G163A:p.V55I,LDB3:NM_001171611:exon3:c.G163A:p.V55I,LDB3:NM_001368063:exon3:c.G163A:p.V55I,LDB3:NM_001368064:exon3:c.G163A:p.V55I,LDB3:NM_001368065:exon3:c.G163A:p.V55I,LDB3:NM_001368066:exon3:c.G163A:p.V55I,LDB3:NM_001368067:exon3:c.G163A:p.V55I,LDB3:NM_001368068:exon3:c.G163A:p.V55I,LDB3:NM_007078:exon3:c.G163A:p.V55I	Cardiomyopathy, dilated, 1C, with or without LVNC, Autosomal dominant;Cardiomyopathy, hypertrophic, 24, Autosomal dominant;Left ventricular noncompaction 3, Autosomal dominant;Myopathy, myofibrillar, 4, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	54696	Cardiomyopathy|not_provided|not_specified|Myofibrillar_Myopathy,_Dominant|Dilated_Cardiomyopathy,_Dominant|Cardiovascular_phenotype|Dilated_cardiomyopathy_1C|Myofibrillar_myopathy_4	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MedGen:CN169374|MedGen:CN239446|MedGen:CN239310|MedGen:CN230736|MONDO:MONDO:0011094,MedGen:C1832244,OMIM:601493,Orphanet:154,Orphanet:54260|MONDO:MONDO:0012277,MedGen:C4721886,OMIM:609452,Orphanet:98912	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.042	.	0.0011	0.01877	0.0072	0.0013	0.0068	0.0829	0	0.0005	0.0055	0.0017	0.0068822	1064	154602	rs3740343	0.0022	0.0022	0.0022	0.0021	0.0569	0.0021	0.0021	0.0549	0.0541	0.0006	0.0051	0.0053	0.0569	0	0.0003	9.532e-05	0.0049	0.0016	0.0038	0.0038	0.0036	0.0041	0.0790	0.0036	0.0035	0.0727	0.0702	0.0008	0	0.0054	0.0055	0.0790	0	0	0.0002	0.0038	0.0031	0.953	0.09866	T	1.0	0.11795	T	0.444	0.55854	B	0.178	0.43842	B	0.010905	0.29736	N	0.000000	0.999842	0.52396	D	-0.31	0.03598	N	1.53	0.30401	T	-0.08	0.16598	N	0.69	0.70702	-1.0970	0.04474	T	0.003	0.00897	T	10	0.0027198195	0.00042	T	.	.	.	0.042	0.11227	.	.	0.481690325388	0.47800	0.2117056381892599	0.21086	0.175839967579	0.19797	0.520493805408	0.41695	T	0.082499	0.36840	T	-0.621348	0.00108	T	-0.598493	0.12939	T	0.0125165561906274	0.00207	T	0.785621	0.42343	T	0.111602925	0.26371	0.13472922	0.32276	0.120809756	0.28421	0.101918496	0.24411	-7.169	0.59506	T	.	.	0.074	0.05017	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.249036	0.44386	21.9	0.99702023367273962	0.80729	0.88863	0.49000	D	AEFDGBHCI	0.311054	0.41689	N	-0.216748945562915	0.32446	1.829935	-0.0472555186734052	0.37609	2.204393	0.999999998375747	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.65	3.8	0.42887	3.581000	0.53658	2.921000	0.35563	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.999000	0.91618	0.1413:0.0:0.8587:0.0	11.847	0.51662	895	0.25842	.;.;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ 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	0.003021	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.007576	0.05	1153.43	35	chr10	86679436	.	G	A	1153.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.541;DP=441;ExcessHet=0;FS=3.251;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=0.912;SOR=0.793	GT:AD:DP:GQ:PL	0/1:75,53:128:99:1165,0,1731	9	0	1	0
chr10	89403641	89403641	G	C	exonic	IFIT1	.	nonsynonymous SNV	IFIT1:NM_001548:exon2:c.G1366C:p.A456P,IFIT1:NM_001270927:exon3:c.G1366C:p.A456P,IFIT1:NM_001270928:exon3:c.G1273C:p.A425P,IFIT1:NM_001270929:exon3:c.G1273C:p.A425P,IFIT1:NM_001270930:exon3:c.G1273C:p.A425P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.826	0.110795725916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	2.873e-05	5.45e-06	0	2.99e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	2.99e-05	0	3.829e-05	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.002024	0.37411	U	0.175846	1	0.81001	D	2.83	0.82355	M	-3.5	0.94658	D	-4.64	0.79998	D	0.645	0.65673	0.997	0.97141	D	0.909	0.96996	D	10	0.97418547	0.97121	D	0.110796	0.78832	D	0.826	0.94466	0.899	0.97729	0.985082141014	0.98492	0.8079779210656974	0.80752	0.450892133838	0.44853	0.462060928345	0.33594	T	0.809042	0.95208	D	0.494798	0.94145	D	0.472966	0.94068	D	0.994435429573059	0.85721	D	0.79652	0.44001	T	0.93677735	0.94920	0.82939625	0.90146	0.93677735	0.94920	0.82939625	0.90146	-8.518	0.64548	D	.	.	0.924	0.84509	P	.;.	.;.	4.423042	0.68520	25.2	0.99799447171960343	0.88461	0.97440	0.74764	D	AEFBI	0.901291	0.84780	D	0.673294674577491	0.77881	6.761252	0.556896627571631	0.71877	5.722491	0.992365808123254	0.32813	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.47	5.47	0.80345	4.657000	0.61185	5.071000	0.47178	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.633000	0.32236	0.0787:0.0:0.9213:0.0	12.078	0.52954	883	0.28872	Tetratricopeptide repeat-containing 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	.	.	.	.	.	.	.	.	0.05556	95.05	121	chr10	89403641	.	G	C	95.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-2.047;DP=729;ExcessHet=0;FS=183.788;InbreedingCoeff=-0.0813;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=2.55;SOR=7.978	GT:AD:DP:GQ:PL	0/1:66,31:100:99:106,0,1170	8	0	1	1
chr10	95356476	95356476	C	T	exonic	SORBS1	.	nonsynonymous SNV	SORBS1:NM_001384447:exon19:c.G2089A:p.A697T,SORBS1:NM_001384448:exon19:c.G2128A:p.A710T,SORBS1:NM_001384450:exon19:c.G2089A:p.A697T,SORBS1:NM_001384451:exon19:c.G2089A:p.A697T,SORBS1:NM_001384449:exon20:c.G2155A:p.A719T,SORBS1:NM_001384452:exon20:c.G2155A:p.A719T,SORBS1:NM_001384453:exon20:c.G2155A:p.A719T,SORBS1:NM_001384454:exon21:c.G2155A:p.A719T	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	.	.	0.000599042	0.0052	0.0011	0	0	0	0.0156	0	0.0001	0.0009444	146	154602	rs192403783	0.0030	0.0029	0.0030	0.0030	0.0027	0.0029	0.0029	0.0026	0.0026	0.0003	0.0011	0.0348	0	0.0004	0.0019	0.0027	0.0045	0.0001	0.0022	0.0022	0.0023	0.0021	0.0025	0.0020	0.0019	0.0022	0.0021	0.0004	0	0.0006	0.0372	0	0.0004	0	0.0025	0.0038	0	.	.	.	0.145	0.33000	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.435	0.47395	-0.2053	0.77533	T	0.426	0.76936	T	5	0.007196933	0.00164	T	.	.	.	.	.	.	.	0.563505421885	0.56014	.	.	.	.	.	.	.	.	.	.	-0.206713	0.19845	T	-0.0740093	0.65339	T	0.0855544357298228	0.10682	T	0.818818	0.47619	T	.	.	.	.	.	.	.	.	-10.304	0.75711	D	.	.	0.742	0.74727	P	.	.	3.710848	0.52979	23.3	0.99897422999408003	0.96971	0.98913	0.88541	D	AEFDBI	0.901390	0.84802	D	0.363871612560957	0.59477	4.127308	0.404821135336667	0.61864	4.392677	0.999999999999997	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.063000	0.76410	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:1.0:0.0:0.0	19.712	0.96094	830	0.39242	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2730.43	44	chr10	95356476	.	C	T	2730.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.224;DP=581;ExcessHet=0;FS=1.653;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.563;SOR=0.585	GT:AD:DP:GQ:PL	0/1:105,109:214:99:2742,0,2547	9	0	1	0
chr10	96223879	96223879	C	A	exonic	BLNK	.	nonsynonymous SNV	BLNK:NM_001114094:exon6:c.G472T:p.A158S,BLNK:NM_001258440:exon6:c.G472T:p.A158S,BLNK:NM_001258441:exon6:c.G472T:p.A158S,BLNK:NM_013314:exon6:c.G472T:p.A158S	Agammaglobulinemia 4, Autosomal recessive	6	1478	36	2	0	40	0.0133511	.	.	.	247049	BLNK-related_disorder|not_provided|not_specified|Agammaglobulinemia_4,_autosomal_recessive	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013289,MedGen:C3150752,OMIM:613502	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.032	.	0.0055	0.00299521	0.0055	0.0009	0.0053	0	0.0088	0.0072	0.0110	0.0030	0.005388	833	154602	rs148612299	0.0052	0.0052	0.0050	0.0053	0.0167	0.0051	0.0050	0.0139	0.0129	0.0014	0.0077	0.0353	0	0.0054	0.0167	0.0047	0.0063	0.0033	0.0049	0.0049	0.0047	0.0052	0.0063	0.0046	0.0045	0.0053	0.0049	0.0010	0.0242	0.0063	0.0381	0	0.0083	0.0442	0.0049	0.0081	0.0010	0.552	0.07670	T	0.558	0.10714	T	0.0	0.07471	B	0.003	0.12992	B	0.830031	0.06936	N	1.065940	0.999994	0.08975	N	-0.595	0.02246	N	.	.	.	-0.71	0.20145	N	0.028	0.00618	-0.9360	0.43241	T	0.017	0.06998	T	9	0.002996534	0.00049	T	.	.	.	0.032	0.07718	.	.	0.209943299407	0.20609	0.1276476982693638	0.12690	0.292084130396	0.31614	0.303299188614	0.10895	T	0.296826	0.66944	T	-0.696312	0.00038	T	-0.769115	0.02797	T	0.00258914784501353	0.00027	T	0.531447	0.20104	T	0.038961124	0.05288	0.0503065	0.07868	0.0410187	0.05964	0.04487523	0.05910	-2.947	0.09999	T	.	.	0.065	0.02173	B	.;.;.	.;.;.	-0.616050	0.01528	0.098	0.4530442580867925	0.03546	0.00649	0.02827	N	AEFDBI	0.036936	0.04999	N	-1.70080143896076	0.00839	0.03628185	-1.68879537062121	0.01188	0.0534534	0.936619302429418	0.27262	0.67177	0.52595	0	0.702456	0.74545	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	5.49	-6.93	0.01480	-0.429000	0.07051	-0.222000	0.10754	-0.809000	0.03084	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.1491:0.6322:0.2187:0.0	11.9	0.51959	476	0.77720	.;.;.	.	.	.	.	.	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	0.015121	0.015152	0.023098	0.008772	0.000000	0.017241	0.015337	0.011364	0.05	1251.43	37	chr10	96223879	.	C	A	1251.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.469;DP=443;ExcessHet=0;FS=0.674;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=1.21;SOR=0.618	GT:AD:DP:GQ:PL	0/1:63,58:121:99:1263,0,1504	9	0	1	0
chr10	96981449	96981449	G	A	exonic	LCOR	.	nonsynonymous SNV	LCOR:NM_001346516:exon8:c.G989A:p.S330N	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00542308896859	0.0002	.	0.0001	0	0.0002	0	0	0.0002	0	0.0002	0.0001423	22	154602	rs201530736	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	0	0.0001	0.0020	0	0	0.0003	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	8.167e-05	6.724e-05	7.909e-05	5.994e-05	0	0	6.54e-05	0.0017	0	0	0	0.0001	0.0005	0.0002	0.148	0.24857	T	0.39	0.15506	T	.	.	.	.	.	.	0.037095	0.24443	N	0.342011	0.999444	0.21182	N	.	.	.	2.95	0.09635	T	-0.9	0.24244	N	0.085	0.06190	-0.9827	0.34375	T	0.016	0.06425	T	10	0.023285866	0.00605	T	0.005423	0.13923	T	0.042	0.11227	.	.	0.043077524339	0.03247	0.03921790935150463	0.03867	0.161698305148	0.18250	.	.	.	.	.	.	-0.517971	0.00452	T	-0.689657	0.06409	T	0.0212710683583794	0.00829	T	0.534647	0.17878	T	.	.	.	.	.	.	.	.	-4.26	0.27612	T	.	.	0.086	0.10931	B	.;.	.;.	1.084044	0.14671	11.23	0.86338710904617955	0.16469	0.80121	0.39844	D	AEFBI	0.075431	0.15147	N	-0.57221736195909	0.19793	1.038637	-0.462607931344644	0.23191	1.263495	0.0542962964404255	0.14968	0.372202	0.05800	0	0.546412	0.12157	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	5.33	0.095	0.13793	0.605000	0.23876	0.170000	0.15507	-0.168000	0.11412	0.956000	0.33378	0.019000	0.20708	0.672000	0.33309	0.2045:0.3825:0.413:0.0	6.648	0.22138	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1903.43	34	chr10	96981449	.	G	A	1903.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.339;DP=459;ExcessHet=0;FS=8.383;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-1.085;SOR=1.072	GT:AD:DP:GQ:PL	0/1:76,74:150:99:1915,0,2025	9	0	1	0
chr10	97895317	97895317	C	A	exonic	CRTAC1	.	nonsynonymous SNV	CRTAC1:NM_001206528:exon11:c.G1414T:p.A472S,CRTAC1:NM_018058:exon11:c.G1414T:p.A472S	.	417	1082	22	1	0	24	0.0109689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0292737829437	0.0002	0.000998403	0.0010	0	8.658e-05	0	0	0.0003	0	0.0058	0.0008732	135	154602	rs373229534	0.0005	0.0005	0.0003	0.0007	0.0053	0.0005	0.0005	0.0049	0.0047	5.974e-05	0.0005	0	0	1.88e-05	0.0050	0.0002	0.0007	0.0053	0.0003	0.0003	0.0002	0.0005	0.0033	0.0003	0.0002	0.0021	0.0017	2.406e-05	0	0.0014	0	0	0	0.0034	0.0001	0.0009	0.0033	0.395	0.10802	T	0.501	0.14369	T	0.044	0.24313	B	0.046	0.24676	B	0.013833	0.28718	N	0.357874	0.985971	0.40362	D	0.965	0.23975	L	1.49	0.73311	T	-0.53	0.17417	N	0.378	0.41952	-0.7790	0.56359	T	0.236	0.60319	T	10	0.008894533	0.00201	T	0.029274	0.51816	D	0.072	0.21020	.	.	0.746838286554	0.74455	0.37447943079797663	0.37361	0.325946002528	0.34745	0.531042456627	0.43182	T	0.008659	0.32132	T	-0.397161	0.02417	T	-0.341766	0.40145	T	0.0158794308035071	0.00374	T	0.933407	0.75038	D	0.114148535	0.26951	0.085550085	0.19762	0.114148535	0.26951	0.085550085	0.19761	-7.464	0.57357	T	.	.	0.144	0.31633	B	.;.;.;.	.;.;.;.	3.251371	0.44425	21.9	0.98195935201160278	0.39079	0.92103	0.54951	D	AEFBI	0.524536	0.54768	D	-0.270118696518348	0.30308	1.688701	-0.0665580598771581	0.36781	2.145019	0.999962242330755	0.48965	0.653281	0.48532	0	0.59043	0.45803	0	0.602189	0.34648	0	0.669	0.65921	0	.	.	5.06	5.06	0.67838	1.501000	0.35301	7.609000	0.61840	0.599000	0.40250	0.952000	0.33172	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.016	0.89164	252	0.90114	ASPIC/UnbV;ASPIC/UnbV;.;ASPIC/UnbV	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.001359	0.002924	0.000000	0.000000	0.006098	0.003788	0.05	1329.43	34	chr10	97895317	.	C	A	1329.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=469;ExcessHet=0;FS=8.956;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-0.067;SOR=1.364	GT:AD:DP:GQ:PL	0/1:89,59:148:99:1341,0,2125	9	0	1	0
chr10	98252462	98252462	G	T	exonic	LOXL4	.	stopgain	LOXL4:NM_032211:exon12:c.C1842A:p.Y614X	.	411	1100	11	0	0	11	0.00497512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000599042	0.0005	0	0	0	0	7.512e-05	0	0.0035	0.0004334	67	154602	rs140271302	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	4.474e-05	0	0	0	0.0014	4.145e-05	0.0003	0.0027	7.223e-05	7.218e-05	2.57e-05	0.0001	0.0017	3.968e-05	3.125e-05	0.0008	0.0006	2.407e-05	0	0	0	0	0	0	2.94e-05	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.886	0.88466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182403	0.72264	D	0.486496	0.94335	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive|Recessive	High|High	8.843429	0.98101	38	0.99649448588945277	0.77192	0.85476	0.44612	D	AEFDGBCI	0.302215	0.41052	N	0.547767584779175	0.69948	5.429922	0.374230951559077	0.59982	4.180818	0.994691424578772	0.33757	0.660377	0.49826	0	0.572659	0.20510	0	0.536957	0.11973	0	0.592323	0.36904	0	.	.	5.16	2.31	0.27816	2.070000	0.41116	1.393000	0.26132	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.3319:0.0:0.6681:0.0	7.851	0.28616	762	0.50290	Lysyl oxidase, conserved site	.	.	.	.	.	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1197.43	35	chr10	98252462	.	G	T	1197.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=396;ExcessHet=0;FS=2.059;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=0.369;SOR=0.465	GT:AD:DP:GQ:PL	0/1:34,43:77:99:1209,0,908	9	0	1	0
chr10	98262154	98262154	C	T	exonic	LOXL4	.	nonsynonymous SNV	LOXL4:NM_032211:exon3:c.G337A:p.G113R	.	427	1077	17	1	0	19	0.00874367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.010162734934	0.0002	0.000998403	0.0008	0.0002	0	0.0002	0	0.0003	0	0.0042	0.0006533	101	154602	rs139735732	0.0004	0.0004	0.0003	0.0006	0.0039	0.0004	0.0004	0.0036	0.0034	2.987e-05	0.0001	0	0.0003	7.544e-05	0.0031	0.0002	0.0006	0.0039	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	0.0002	0	0.0001	0	0.0004	0	0	0.0003	0.0005	0.0021	0.621	0.05293	T	0.596	0.08052	T	0.0	0.02946	B	0.002	0.06944	B	0.875581	0.08793	N	0.947331	1	0.08975	N	-0.055	0.04927	N	0.9	0.45248	T	1.0	0.01408	N	0.212	0.23632	-0.9500	0.40972	T	0.031	0.13374	T	10	0.005600661	0.00124	T	0.010163	0.26368	T	0.059	0.16972	0.425	0.47021	0.194818534648	0.19098	0.557784500001143	0.55705	0.129204883604	0.14567	0.219119146466	0.01260	T	0.023614	0.17996	T	-0.629784	0.00096	T	-0.677938	0.07111	T	0.010355910036923	0.00142	T	0.312569	0.06116	T	0.070514545	0.15538	0.09088446	0.21339	0.070514545	0.15538	0.09088446	0.21339	-1.214	0.01270	T	.	.	0.070	0.03336	B	.	.	-0.363852	0.02350	0.255	0.75041132963450929	0.10923	0.03635	0.08881	N	AEFBCI	0.095982	0.19384	N	-1.84805683671024	0.00438	0.01883254	-1.82134516452117	0.00693	0.03086774	0.999987944663931	0.51787	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.69	-5.37	0.02472	-3.694000	0.00439	-4.101000	0.02342	-1.674000	0.00795	0.000000	0.06391	0.000000	0.08366	0.128000	0.19490	0.0:0.4915:0.0:0.5085	13.211	0.59251	760	0.50470	SRCR domain|SRCR domain|SRCR-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	1	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1656.43	37	chr10	98262154	.	C	T	1656.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.63;DP=489;ExcessHet=0;FS=0.572;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=0.357;SOR=0.763	GT:AD:DP:GQ:PL	0/1:96,72:168:99:1668,0,2167	9	0	1	0
chr10	99661522	99661522	G	A	exonic	ENTPD7	.	nonsynonymous SNV	ENTPD7:NM_001349963:exon3:c.G85A:p.V29M,ENTPD7:NM_020354:exon3:c.G85A:p.V29M,ENTPD7:NM_001349962:exon4:c.G91A:p.V31M	.	429	1035	57	1	0	59	0.0277125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0012	0.00199681	0.0034	9.612e-05	0.0036	0	0.0003	0.0025	0.0066	0.0113	0.0029495	456	154602	rs35229854	0.0020	0.0020	0.0016	0.0024	0.0206	0.0019	0.0019	0.0176	0.0165	0.0001	0.0030	0.0064	0	0.0003	0.0206	0.0011	0.0029	0.0118	0.0015	0.0015	0.0014	0.0016	0.0112	0.0014	0.0013	0.0088	0.0080	0.0001	0	0.0021	0.0078	0	9.454e-05	0.0034	0.0016	0.0029	0.0112	0.037	0.43085	D	0.174	0.30045	T	0.911	0.50336	P	0.491	0.47360	P	0.008670	0.30726	N	0.274711	0.996233	0.23076	N	1.5	0.37844	L	2.43	0.15261	T	-0.45	0.14782	N	0.528	0.55713	-1.0678	0.09903	T	0.033	0.14247	T	10	0.009385347	0.00212	T	.	.	.	0.062	0.17934	.	.	0.139678290688	0.13603	0.30423648248339563	0.30336	0.300151110896	0.32375	0.574234604836	0.49276	T	0.012203	0.10769	T	-0.465401	0.00909	T	-0.430905	0.29832	T	0.0340382042267121	0.02645	T	0.748625	0.36937	T	0.037930403	0.04957	0.052645225	0.08714	0.037930403	0.04957	0.052645225	0.08714	-4.611	0.32310	T	.	.	0.116	0.23360	B	.	.	2.997068	0.40031	21.1	0.99836436235638792	0.91714	0.39375	0.26199	N	ALL	0.077766	0.15674	N	0.0143417437295452	0.42508	2.562465	0.0522063431327149	0.42178	2.546715	1.0	0.98316	0.730579	0.87903	0	0.633656	0.55848	0	0.49644	0.08281	0	0.648885	0.59868	0	.	.	5.68	4.77	0.60425	1.296000	0.32994	4.278000	0.42871	-0.153000	0.12021	0.995000	0.38783	1.000000	0.68203	0.950000	0.49671	0.0:0.1384:0.7181:0.1435	11.196	0.47943	838	0.37812	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.013587	0.014620	0.000000	0.017241	0.006098	0.007576	0.05	1087.43	35	chr10	99661522	.	G	A	1087.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.219;DP=398;ExcessHet=0;FS=2.816;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.766;SOR=1.025	GT:AD:DP:GQ:PL	0/1:41,46:87:99:1099,0,969	9	0	1	0
chr10	101010878	101010878	G	T	exonic	PDZD7	.	nonsynonymous SNV	PDZD7:NM_001195263:exon15:c.C2011A:p.R671S	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	3	1517	2	0	0	2	0.000658762	0.0309	0.11	.	654568	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.047	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs925832623	3.112e-05	3.215e-05	3.715e-05	2.494e-05	0.0005	2.345e-05	2.084e-05	0.0002	0.0002	0	0.0004	0	0	0	0.0005	2.317e-05	5.196e-05	0	3.288e-05	3.284e-05	1.286e-05	5.385e-05	0.0001	1.262e-05	7.99e-06	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	4.41e-05	0	0	.	.	.	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539	0.56662	-0.8576	0.51434	T	0.180	0.52721	T	6	0.28959727	0.46541	T	.	.	.	.	.	.	.	0.0934897674506	0.08844	0.6483783243587042	0.64773	.	.	0.731171965599	0.71678	T	.	.	.	-0.101757	0.36135	T	-0.0765274	0.65157	T	0.882548630237579	0.53266	D	0.783222	0.41972	T	0.27543643	0.50607	0.4431767	0.67543	0.27543643	0.50607	0.4431767	0.67543	-5.518	0.42036	T	0.5378990429405159	0.60791	0.377	0.58221	A	.;.	.;.	4.277832	0.65141	24.8	0.90723889873354957	0.19974	0.70579	0.34649	D	AEFDBI	.	.	.	0.278632870790137	0.55065	3.671059	0.380464826479459	0.60360	4.222812	0.999998337568262	0.74766	0.055982	0.00716	0	0.060609	0.00678	0	0.072005	0.02045	0	0.079188	0.02158	0	0.961826	0.66234	5.3	5.3	0.74745	4.425000	0.59623	8.404000	0.77112	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.7101:0.2899	11.447	0.49372	556	0.71678	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001692	0.000000	0.000000	0.000000	0.000000	0.000000	0.008929	0.000000	0.05	800.43	42	chr10	101010878	.	G	T	800.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.42;DP=377;ExcessHet=0;FS=5.987;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.525;SOR=1.597	GT:AD:DP:GQ:PL	0/1:29,27:56:99:812,0,718	9	0	1	0
chr10	102141234	102141234	T	C	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon5:c.T2726C:p.V909A,PPRC1:NM_001288728:exon5:c.T2366C:p.V789A,PPRC1:NM_015062:exon5:c.T2726C:p.V909A	.	393	1072	56	1	0	58	0.0263397	.	.	.	3202232	PPRC1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.047	0.0101490930981	0.0015	0.00119808	0.0029	0.0009	0.0029	0	0	0.0031	0.0066	0.0059	0.002639	408	154602	rs143292683	0.0020	0.0020	0.0019	0.0022	0.0196	0.0020	0.0019	0.0167	0.0156	0.0004	0.0032	0.0087	2.519e-05	9.36e-05	0.0196	0.0016	0.0034	0.0062	0.0021	0.0021	0.0019	0.0023	0.0066	0.0019	0.0018	0.0055	0.0051	0.0004	0	0.0066	0.0066	0	0	0.0102	0.0022	0.0024	0.0048	0.002	0.72154	D	0.374	0.16280	T	0.231	0.30614	B	0.039	0.23607	B	0.040146	0.24091	N	0.298293	0.999961	0.19072	N	1.83	0.48079	L	1.83	0.25018	T	0.02	0.06739	N	0.238	0.27792	-1.0440	0.16118	T	0.037	0.16116	T	10	0.0036765337	0.00067	T	0.010149	0.26346	T	0.047	0.12962	.	.	0.0675242888579	0.06100	0.14303085265315366	0.14226	0.500752496802	0.48480	0.469196081161	0.34570	T	0.013009	0.30165	T	-0.521682	0.00430	T	-0.519524	0.20342	T	0.0373172031698167	0.03211	T	0.783222	0.42989	T	0.058052696	0.11632	0.085910715	0.19868	0.058052696	0.11631	0.085910715	0.19868	-2.879	0.08935	T	.	.	0.188	0.40441	B	.;.	.;.	2.026997	0.25760	16.88	0.86320634306687338	0.16458	0.29377	0.23805	N	AEFBCI	0.053537	0.09655	N	-0.49094756658609	0.22378	1.19442	-0.420153200462829	0.24406	1.336295	0.99382276453179	0.33371	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.68	4.68	0.58319	0.965000	0.28916	4.582000	0.43923	0.665000	0.62972	0.035000	0.20724	1.000000	0.68203	0.012000	0.09680	0.0:0.0:0.1692:0.8308	10.053	0.41398	666	0.61362	.;.	.	.	.	.	.	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	0.016113	0.005051	0.024457	0.008772	0.050000	0.000000	0.021341	0.007576	0.1	4610.14	34	chr10	102141234	.	T	C	4610.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.14;DP=705;ExcessHet=0.2348;FS=2.121;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.379;SOR=0.593	GT:AD:DP:GQ:PL	0/1:105,102:207:99:2587,0,2652	8	0	2	0
chr10	103379720	103379720	G	A	exonic	TAF5	.	nonsynonymous SNV	TAF5:NM_006951:exon4:c.G1226A:p.S409N,TAF5:NM_139052:exon4:c.G1226A:p.S409N	.	426	1064	30	2	0	34	0.0157262	.	.	.	806380	not_provided	MedGen:C3661900	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.048	.	0.0056	0.00399361	0.0056	0.0011	0.0016	0	0.0003	0.0062	0.0055	0.0140	0.0057373	887	154602	rs142451092	0.0076	0.0076	0.0075	0.0078	0.0134	0.0075	0.0074	0.0121	0.0119	0.0009	0.0017	0.0087	2.524e-05	0.0004	0.0134	0.0083	0.0069	0.0128	0.0042	0.0042	0.0042	0.0043	0.0131	0.0040	0.0039	0.0105	0.0095	0.0013	0	0.0021	0.0113	0	0.0002	0	0.0065	0.0062	0.0131	0.422	0.09776	T	0.293	0.20811	T	0.001	0.07471	B	0.001	0.04355	B	0.000000	0.84330	D	0.036225	0.999757	0.48800	D	0.44	0.12706	N	0.64	0.52867	T	-1.11	0.28703	N	0.176	0.18920	-1.0525	0.13709	T	0.056	0.23413	T	10	0.0035065114	0.00063	T	.	.	.	0.048	0.13305	.	.	0.529862097387	0.52634	0.3373209658794253	0.33645	0.713057731645	0.61797	0.604621291161	0.53557	T	0.013891	0.11931	T	-0.560698	0.00251	T	-0.567149	0.15713	T	0.0121472111995332	0.00194	T	0.79622	0.43953	T	0.13390729	0.31129	0.15192956	0.35767	0.13390729	0.31129	0.15192956	0.35766	-4.102	0.25320	T	.	.	0.094	0.14339	B	.	.	2.200970	0.28072	17.67	0.89981633994300625	0.19274	0.96506	0.69479	D	AEFBI	0.528536	0.55002	D	-0.143862010913901	0.35496	2.03962	0.105540337948869	0.44831	2.757352	0.99482769110017	0.33818	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.64	5.64	0.86480	4.786000	0.62117	5.017000	0.46715	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.1431:0.0:0.8569:0.0	11.099	0.47386	242	0.90534	.	.	.	.	.	.	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	0.011581	0.000000	0.006793	0.029240	0.000000	0.000000	0.021341	0.011364	0.05	749.43	33	chr10	103379720	.	G	A	749.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.131;DP=377;ExcessHet=0;FS=2.074;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.006;SOR=0.422	GT:AD:DP:GQ:PL	0/1:35,31:66:99:761,0,880	9	0	1	0
chr10	114045564	114045564	T	C	exonic	ADRB1	.	stoploss	ADRB1:NM_000684:exon1:c.T1432C:p.X478Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.777e-07	3.42e-06	1.685e-06	0	3.074e-05	0	0	.	.	0	0	0	0	0	0	0	0	3.074e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.139	0.13769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0579252	0.43231	T	-0.320982	0.42467	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.222652	0.28365	17.77	0.85130747262349626	0.15704	0.82968	0.42128	D	ALL	.	.	.	0.766374435628293	0.83966	8.158167	0.548962284281073	0.71323	5.637661	0.999936372731032	0.46732	0.166803	0.03914	0	0.067947	0.01809	2	0.182457	0.04408	0	0.175304	0.04163	0	0.170224	0.28860	4.45	4.45	0.53365	1.319000	0.33260	7.399000	0.58563	0.515000	0.23462	0.997000	0.40164	1.000000	0.68203	0.755000	0.35964	0.0:0.0:0.1712:0.8288	9.929	0.40681	762	0.50290	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	483.43	34	chr10	114045564	.	T	C	483.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.864;DP=379;ExcessHet=0;FS=1.058;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.95;ReadPosRankSum=-0.245;SOR=0.493	GT:AD:DP:GQ:PL	0/1:31,23:54:99:495,0,696	9	0	1	0
chr10	117341050	117341050	C	T	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925A:p.E309K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.111422988151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.284	0.21411	T	0.104	0.25941	B	0.024	0.20255	B	0.100580	0.19880	N	0.530412	0.918501	0.36608	D	1.04	0.26193	L	-1.98	0.85247	D	-0.39	0.13611	N	0.56	0.58458	-0.3391	0.73870	T	0.434	0.77478	T	10	0.2526929	0.42627	T	0.111423	0.78920	D	0.304	0.62510	0.426	0.47185	0.406687239423	0.40287	0.3484412965450981	0.34758	0.878990842918	0.69697	0.551437139511	0.46060	T	0.004486	0.03887	T	0.0534098	0.58780	T	-0.161057	0.58257	T	0.401935211681401	0.29015	T	0.631737	0.24648	T	0.12929	0.30201	0.1091909	0.26311	0.12929	0.30201	0.1091909	0.26311	-4.196	0.26694	T	.	.	0.138	0.30103	B	.	.	2.876239	0.38048	20.6	0.99707916019332055	0.81143	0.81768	0.41106	D	AEFBI	0.402723	0.47670	N	-0.00176634886459942	0.41776	2.504867	0.196643706894966	0.49661	3.166775	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1574.67	137	chr10	117341050	.	C	T	1574.67	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.629;DP=814;ExcessHet=1.5895;FS=271.185;InbreedingCoeff=-0.3792;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=3.29;ReadPosRankSum=2.67;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,42:120:99:0|1:117341048_C_T:548,0,1892:117341048	3	0	4	3
chr10	119165545	119165545	C	T	exonic	SFXN4	.	nonsynonymous SNV	SFXN4:NM_213649:exon1:c.G103A:p.E35K	Combined oxidative phosphorylation deficiency 18, Autosomal recessive	381	1120	19	2	0	23	0.0101635	.	.	.	2347668	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.130	0.157050435121	7.7e-05	.	0.0001	0	0	0	0	8.044e-05	0.0012	0.0004	8.41e-05	13	154602	rs372672920	0.0001	0.0001	9.878e-05	0.0001	0.0016	8.899e-05	8.375e-05	0.0008	0.0006	0	4.743e-05	7.935e-05	0	0	0.0016	6.998e-05	0.0003	0.0005	0.0001	0.0001	0.0001	0.0001	0.0004	7.579e-05	6.283e-05	9.049e-05	7.013e-05	9.648e-05	0	0	0	0	0	0.0032	0.0002	0	0.0004	0.029	0.45756	D	0.063	0.45110	T	0.929	0.51690	P	0.435	0.45529	B	0.210870	0.16369	N	0.574289	1	0.08975	N	2.175	0.60977	M	1.39	0.33842	T	-2.02	0.46503	N	0.326	0.36674	-1.0349	0.18888	T	0.064	0.26420	T	10	0.13516244	0.25721	T	0.15705	0.83771	D	0.130	0.35528	.	.	0.243398259712	0.23965	0.3819189429750552	0.38106	0.774241338114	0.64942	0.565121591091	0.47989	T	0.083098	0.36976	T	-0.377941	0.03209	T	-0.446512	0.28083	T	0.0676171208650311	0.08312	T	0.592841	0.21881	T	0.39509577	0.60392	0.32366663	0.58297	0.51960593	0.68238	0.3662674	0.61959	-5.933	0.45716	T	.	.	0.174	0.38080	B	.	.	1.999558	0.25404	16.75	0.99415485706154727	0.63501	0.06565	0.12579	N	ALL	0.069066	0.13654	N	-0.748737879483786	0.14668	0.7325966	-0.886815717152656	0.12405	0.6379448	0.999999999995417	0.74766	0.72623	0.87236	0	0.504199	0.08210	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	3.68	0.662	0.17049	0.007000	0.13074	-0.168000	0.11254	-1.268000	0.01283	0.004000	0.16614	0.000000	0.08366	0.523000	0.29544	0.0:0.5285:0.4715:0.0	12.668	0.56219	750	0.51762	.	.	.	.	.	.	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	0.002016	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.000000	0.05	553.43	35	chr10	119165545	.	C	T	553.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.86;DP=363;ExcessHet=0;FS=1.121;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-2.247;SOR=0.717	GT:AD:DP:GQ:PL	0/1:22,26:48:99:565,0,481	9	0	1	0
chr10	122216727	122216727	C	T	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_006997:exon5:c.C1679T:p.T560M,TACC2:NM_206860:exon5:c.C1679T:p.T560M,TACC2:NM_001291878:exon6:c.C1715T:p.T572M,TACC2:NM_001291879:exon7:c.C557T:p.T186M,TACC2:NM_206861:exon8:c.C1883T:p.T628M,TACC2:NM_001291876:exon10:c.C7310T:p.T2437M,TACC2:NM_001291877:exon10:c.C7457T:p.T2486M,TACC2:NM_206862:exon11:c.C7445T:p.T2482M	.	429	1071	21	1	0	23	0.0106236	.	.	.	2809684	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.190	.	0.0055	0.00259585	0.0066	0.0012	0.0037	0	0.0203	0.0084	0.0110	0.0027	0.0062742	970	154602	rs34944231	0.0063	0.0063	0.0064	0.0063	0.0172	0.0062	0.0062	0.0144	0.0134	0.0013	0.0049	0.0115	2.519e-05	0.0190	0.0172	0.0062	0.0071	0.0032	0.0056	0.0056	0.0052	0.0060	0.0085	0.0053	0.0051	0.0073	0.0069	0.0014	0	0.0085	0.0112	0	0.0168	0.0068	0.0060	0.0095	0.0021	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.99	0.78936	D	0.002731	0.36034	N	0.000000	0.707636	0.39464	D	2.045	0.56016	M	3.82	0.20959	T	-3.12	0.82700	D	0.385	0.52119	-1.0425	0.16562	T	0.087	0.33606	T	10	0.008578092	0.00194	T	.	.	.	0.190	0.46781	.	.	0.74928862865	0.74702	0.3135585914688497	0.31268	0.506261591587	0.48838	0.395141631365	0.24391	T	0.254498	0.62516	T	-0.395171	0.02490	T	-0.335847	0.40814	T	0.0202739606712517	0.00727	T	0.980602	0.93511	D	0.17032468	0.37601	0.20229791	0.44251	0.17032468	0.37601	0.20229791	0.44250	-3.892	0.24639	T	.	.	0.108	0.23918	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.806375	0.78151	26.8	0.99906649515995816	0.97726	0.96615	0.70031	D	AEFDBI	0.557772	0.56726	D	0.670355751745337	0.77691	6.723674	0.694043590370746	0.81925	7.642314	0.999999723206218	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	5.395000	0.66037	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	19.719	0.96128	957	0.09725	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.009063	0.010101	0.009511	0.017544	0.000000	0.017241	0.009146	0.011364	0.15	5343.45	151	chr10	122216727	.	C	T	5343.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.441;DP=695;ExcessHet=0.7463;FS=1.107;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.3;SOR=0.62	GT:AD:DP:GQ:PL	0/1:68,85:153:99:2125,0,1592	7	0	3	0
chr10	122227937	122227937	G	A	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_006997:exon8:c.G2059A:p.V687M,TACC2:NM_206860:exon8:c.G2059A:p.V687M,TACC2:NM_001291878:exon9:c.G2095A:p.V699M,TACC2:NM_001291879:exon10:c.G937A:p.V313M,TACC2:NM_206861:exon11:c.G2263A:p.V755M,TACC2:NM_001291876:exon13:c.G7690A:p.V2564M,TACC2:NM_001291877:exon13:c.G7837A:p.V2613M,TACC2:NM_206862:exon14:c.G7825A:p.V2609M	.	429	1090	3	0	0	3	0.00137426	.	.	.	2672914	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.0118040479916	.	.	4.121e-05	0	0	0	0	7.499e-05	0	0	3.23e-05	5	154602	rs200541273	4.994e-05	4.994e-05	4.084e-05	5.913e-05	2.987e-05	4.059e-05	3.734e-05	9.31e-06	7.61e-06	2.987e-05	0	0.0017	0	0	0	1.529e-05	0.0002	1.159e-05	2.627e-05	2.626e-05	2.568e-05	2.689e-05	.	8.14e-06	5.14e-06	.	.	0	0	0	0.0012	0	0	0	0	0	0	0.002	0.72154	D	0.049	0.58089	D	0.429	0.43409	B	0.27	0.41633	B	0.337495	0.14016	N	0.533387	0.990594	0.27459	N	1.39	0.34934	L	3.95	0.18570	T	-1.13	0.30762	N	0.302	0.34336	-1.0707	0.09260	T	0.032	0.13592	T	10	0.009913832	0.00222	T	0.011804	0.29782	T	0.048	0.13305	0.132	0.03662	0.319686207203	0.31575	0.13741907348314877	0.13665	0.240167342679	0.26565	0.333066642284	0.15397	T	0.035837	0.23874	T	-0.284258	0.10222	T	-0.538436	0.18450	T	0.0725953248392799	0.09010	T	0.972203	0.89922	D	0.061629355	0.12783	0.08979402	0.21019	0.061629355	0.12782	0.08979402	0.21018	-5.123	0.39165	T	.	.	0.096	0.17953	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.086137	0.26537	17.15	0.98423824042551211	0.41320	0.21517	0.21429	N	AEFGBI	0.109281	0.21710	N	-0.607417867436289	0.18720	0.9741876	-0.555180450611674	0.20668	1.114601	0.657845636368872	0.22238	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.25	3.37	0.37692	-0.340000	0.07868	.	.	-0.120000	0.14102	0.192000	0.24212	0.998000	0.33993	0.964000	0.52637	0.0:0.2515:0.4596:0.2889	8.779	0.33938	951	0.11083	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.05	1779.43	33	chr10	122227937	.	G	A	1779.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.299;DP=484;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-1.491;SOR=0.714	GT:AD:DP:GQ:PL	0/1:95,79:174:99:1791,0,2301	9	0	1	0
chr10	124021246	124021246	-	GGC	exonic	CHST15	.	nonframeshift insertion	CHST15:NM_001270765:exon6:c.1356_1357insGCC:p.T452_P453insA,CHST15:NM_014863:exon6:c.1356_1357insGCC:p.T452_P453insA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0001	0.0007	0.0066	0.0003	0.0002	0	0.0018	0.0004226	11	26028	rs752093499	0.0012	0.0019	0.0011	0.0013	0.0250	0.0011	0.0011	0.0237	0.0231	0.0003	0.0034	0.0006	0.0250	0.0011	0.0018	0.0001	0.0015	0.0036	0.0002	0.0003	0.0002	0.0003	0.0045	0.0002	0.0001	0.0030	0.0025	2.437e-05	0	0.0002	0	0.0045	0.0003	0	0	0	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	98.39	112	chr10	124021246	.	G	GGGC	98.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.38;DP=781;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.28;ReadPosRankSum=-0.668;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,5:30:99:1|0:124021236_CG_C:110,0,930:124021236	9	0	1	0
chr10	124696169	124696169	C	T	exonic	FAM53B	.	nonsynonymous SNV	FAM53B:NM_014661:exon3:c.G122A:p.C41Y	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.01365520187	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs759031823	3.421e-06	3.42e-06	2.723e-06	4.125e-06	0.0002	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	8.994e-07	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.999	0.77913	D	0.997	0.86255	D	0.000002	0.62929	D	0.104600	0.994497	0.42303	D	2.1	0.58353	M	0.89	0.45636	T	-2.33	0.58085	N	0.781	0.77789	-0.9177	0.45864	T	0.154	0.48378	T	10	0.70739955	0.72826	D	0.013655	0.33213	T	0.314	0.63588	0.532	0.64002	0.492816438443	0.48917	0.6426928150701828	0.64204	1.2086047739	0.80767	0.713018536568	0.69030	T	0.097532	0.40045	T	-0.0233938	0.48369	T	-0.174526	0.57027	T	0.884414672851562	0.53465	D	0.863014	0.63576	D	0.17977075	0.39065	0.29630217	0.55662	0.17977075	0.39065	0.29630217	0.55661	-4.506	0.30967	T	.	.	0.324	0.54825	B	.;.;.	.;.;.	4.737516	0.76369	26.5	0.93450132461680668	0.23231	0.78274	0.38593	D	AEFDGBCI	0.503513	0.53547	D	0.381241033567154	0.60406	4.22917	0.396352169249094	0.61339	4.332678	0.999999934740948	0.74766	0.615465	0.37627	0	0.516746	0.08562	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.16	4.25	0.49658	3.304000	0.51572	5.914000	0.51064	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9166:0.0:0.0834	11.392	0.49058	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1296.43	34	chr10	124696169	.	C	T	1296.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.792;DP=422;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.61;SOR=0.752	GT:AD:DP:GQ:PL	0/1:51,55:106:99:1308,0,1238	9	0	1	0
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	.	.	.	.	.	.	.	.	0.5	4849.02	142	chr10	124994489	.	T	G	4849.02	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.87;DP=1577;ExcessHet=22.563;FS=32.626;InbreedingCoeff=-0.998;MLEAC=10;MLEAF=0.5;MQ=58.54;MQRankSum=-5.718;QD=3.23;ReadPosRankSum=-4.421;SOR=3.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,17:136:99:0|1:124994489_T_G:356,0,4936:124994489	0	0	10	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	.	.	.	.	.	.	.	.	0.5	6034.04	150	chr10	124994501	.	G	A	6034.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.21;DP=1649;ExcessHet=22.563;FS=38.022;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.03;MQRankSum=-5.929;QD=3.89;ReadPosRankSum=-3.325;SOR=3.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,17:135:99:0|1:124994489_T_G:359,0,4904:124994489	0	0	10	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	.	.	.	.	.	.	.	.	0.5	6176.04	150	chr10	124994505	.	A	T	6176.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.17;DP=1668;ExcessHet=22.563;FS=40.71;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.93;MQRankSum=-5.733;QD=4.01;ReadPosRankSum=-2.482;SOR=3.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,17:134:99:0|1:124994489_T_G:361,0,4839:124994489	0	0	10	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	.	.	.	.	.	.	.	.	0.5	8820.04	174	chr10	124994530	.	G	A	8820.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.599;DP=1823;ExcessHet=22.563;FS=63.896;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.45;MQRankSum=-4.587;QD=5.36;ReadPosRankSum=1.32;SOR=4.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,24:147:99:0|1:124994523_G_A:623,0,4975:124994523	0	0	10	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	.	.	.	.	.	.	.	.	0.5	4694.8	180	chr10	124994542	.	C	T	4694.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-1.796;DP=1829;ExcessHet=15.1594;FS=59.93;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=57.08;MQRankSum=-4.748;QD=3.27;ReadPosRankSum=2.87;SOR=4.447	GT:AD:DP:GQ:PL	0/1:118,27:145:99:341,0,3260	0	0	9	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	.	.	.	.	.	.	.	.	0.45	4755.02	191	chr10	124994563	.	A	T	4755.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.391;DP=1867;ExcessHet=15.1594;FS=69.308;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.08;MQRankSum=-4.998;QD=3.27;ReadPosRankSum=3.5;SOR=4.822	GT:AD:DP:GQ:PL	0/1:124,27:151:99:227,0,3580	1	0	9	0
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	12161.0	190	chr10	124994577	.	C	A	12161.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-3.833;DP=1897;ExcessHet=22.563;FS=80.112;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.03;MQRankSum=-5.452;QD=7.18;ReadPosRankSum=2.73;SOR=4.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,30:160:99:0|1:124994577_C_A:868,0,5173:124994577	0	0	10	0
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17,CTBP2:NM_022802:exon2:c.1789delG:p.V597Wfs*17,CTBP2:NM_001321013:exon3:c.169delG:p.V57Wfs*17,CTBP2:NM_001083914:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290214:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290215:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321012:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321014:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001329:exon4:c.169delG:p.V57Wfs*17	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	255.6	126	chr10	125003381	.	AC	A	255.6	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.92;DP=975;ExcessHet=2.8389;FS=3.831;InbreedingCoeff=-0.3364;MLEAC=5;MLEAF=0.25;MQ=59.35;MQRankSum=-9.355;QD=0.51;ReadPosRankSum=-1.661;SOR=1.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,7:89:47:0|1:125003381_AC_A:47,0,3422:125003381	5	0	5	0
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V,CTBP2:NM_022802:exon2:c.C1723G:p.L575V,CTBP2:NM_001321013:exon3:c.C103G:p.L35V,CTBP2:NM_001083914:exon4:c.C103G:p.L35V,CTBP2:NM_001290214:exon4:c.C103G:p.L35V,CTBP2:NM_001290215:exon4:c.C103G:p.L35V,CTBP2:NM_001321012:exon4:c.C103G:p.L35V,CTBP2:NM_001321014:exon4:c.C103G:p.L35V,CTBP2:NM_001329:exon4:c.C103G:p.L35V	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	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	.	.	.	.	.	.	.	.	0.25	344.3	105	chr10	125003448	.	G	C	344.3	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-0.532;DP=844;ExcessHet=1.5895;FS=5.299;InbreedingCoeff=-0.3457;MLEAC=5;MLEAF=0.313;MQ=59.2;MQRankSum=-8.746;QD=0.96;ReadPosRankSum=0.877;SOR=0.96	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,6:78:35:0|1:125003425_G_C:35,0,3005:125003425	4	0	4	2
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X,CTBP2:NM_001083914:exon3:c.A22T:p.K8X,CTBP2:NM_001290214:exon3:c.A22T:p.K8X,CTBP2:NM_001290215:exon3:c.A22T:p.K8X,CTBP2:NM_001321012:exon3:c.A22T:p.K8X,CTBP2:NM_001321014:exon3:c.A22T:p.K8X,CTBP2:NM_001329:exon3:c.A22T:p.K8X	.	432	1023	67	0	0	67	0.0317085	.	.	.	1330655	not_specified|Pulmonary_artery_atresia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs76555439	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47795	0.93627	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	9.829600	0.99355	43	0.99586803091769216	0.73336	0.87743	0.47386	D	AEFGBHCI	0.077324	0.15576	N	0.854919915911592	0.89387	9.950527	0.733718632913773	0.84935	8.434	0.999999999999905	0.74766	0.645754	0.44609	0	0.627178	0.54094	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.743000	0.68032	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	236.57	144	chr10	125039033	.	T	A	236.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.24;DP=898;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.76;MQRankSum=-11.94;QD=0.38;ReadPosRankSum=-0.451;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,13:156:75:0|1:125039033_T_A:75,0,5900:125039033	6	0	4	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R,CTBP2:NM_001083914:exon3:c.A20G:p.H7R,CTBP2:NM_001290214:exon3:c.A20G:p.H7R,CTBP2:NM_001290215:exon3:c.A20G:p.H7R,CTBP2:NM_001321012:exon3:c.A20G:p.H7R,CTBP2:NM_001321014:exon3:c.A20G:p.H7R,CTBP2:NM_001329:exon3:c.A20G:p.H7R	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0169483827955	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001921	5	26028	rs78849795	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.911	0.02952	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.976171	0.25390	N	1.155	0.29575	L	-1.53	0.81559	D	-0.28	0.11547	N	0.556	0.58117	-0.7162	0.59649	T	0.384	0.73988	T	9	0.2395181	0.41094	T	0.016948	0.38442	T	0.314	0.63588	0.302	0.27003	0.989459454501	0.98934	.	.	.	.	.	.	.	0.157543	0.50018	T	0.164577	0.70624	D	-0.00137324	0.70247	D	0.378074373079758	0.28108	T	0.886111	0.61235	D	0.15569115	0.35175	0.15271002	0.35916	0.15569115	0.35174	0.15271002	0.35915	-2.736	0.07610	T	.	.	0.160	0.48978	B	.;.;.;.	.;.;.;.	3.581586	0.50496	23.0	0.96844956273467708	0.31320	0.86671	0.46001	D	AEFGBHCI	0.757168	0.69621	D	-0.0152146198236119	0.41167	2.457583	0.165997750048251	0.47996	3.021633	0.999999999999905	0.74766	0.645754	0.44609	0	0.60822	0.50512	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	236.57	144	chr10	125039035	.	T	C	236.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.41;DP=890;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.74;MQRankSum=-11.94;QD=0.38;ReadPosRankSum=-0.442;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,13:156:75:0|1:125039033_T_A:75,0,5900:125039033	6	0	4	0
chr11	433904	433904	C	T	exonic	ANO9	.	nonsynonymous SNV	ANO9:NM_001012302:exon3:c.G115A:p.V39M	.	404	1103	15	0	0	15	0.00675371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.726699431834	0.0006	0.00119808	0.0020	0	0.0059	0	0	0.0031	0	0.0015	0.0006468	100	154602	rs137970750	0.0007	0.0007	0.0007	0.0007	0.0095	0.0007	0.0007	0.0075	0.0067	9.139e-05	0.0014	0.0094	0	0	0.0095	0.0005	0.0015	0.0010	0.0007	0.0007	0.0007	0.0007	0.0010	0.0006	0.0005	0.0007	0.0005	9.619e-05	0	0.0010	0.0095	0	0	0.0136	0.0006	0.0005	0.0010	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.737768	0.29765	N	2.885	0.83555	M	-0.69	0.72678	T	-1.59	0.38345	N	0.193	0.21188	-0.4446	0.70578	T	0.313	0.68326	T	9	0.014223188	0.00299	T	0.726699	0.97796	D	0.317	0.63904	.	.	0.503124787307	0.49949	0.6871554504391073	0.68655	0.838528719588	0.67923	0.423726081848	0.28349	T	0.275166	0.64769	T	-0.260558	0.12834	T	-0.192601	0.55347	T	0.367361277341843	0.27695	T	0.834017	0.50309	T	0.050295133	0.09065	0.14454213	0.34313	0.050295133	0.09065	0.14454213	0.34312	-9.709	0.72151	D	.	.	0.643	0.70621	P	.	.	4.430404	0.68699	25.3	0.9985111188440321	0.93013	0.83443	0.42560	D	AEFDBI	0.189703	0.31695	N	0.196681000321814	0.51039	3.288	0.0891082290141585	0.43999	2.690234	0.977733057408551	0.29850	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	3.13	3.13	0.35090	1.967000	0.40115	7.279000	0.58016	0.532000	0.24858	0.922000	0.32020	1.000000	0.68203	0.007000	0.07825	0.0:1.0:0.0:0.0	12.583	0.55754	900	0.24599	.	.	.	.	.	.	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	0.014918	0.005319	0.015235	0.023529	0.055556	0.043103	0.003125	0.003846	0.05	584.43	61	chr11	433904	.	C	T	584.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.442;DP=493;ExcessHet=0;FS=2.188;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.443;SOR=0.713	GT:AD:DP:GQ:PL	0/1:33,26:59:99:596,0,752	9	0	1	0
chr11	1017892	1017892	C	0	exonic	MUC6	.	.	.	.	354	873	156	4	135	299	0.0858639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2736.46	416	chr11	1017892	.	C	*	2736.46	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.832;DP=4774;ExcessHet=0.7463;FS=3.94;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=55.74;MQRankSum=-8.576;QD=1.68;ReadPosRankSum=0.133;SOR=1.096	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:533,64:612:99:.:.:1017,0,22157:.	9	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	.	.	.	.	.	.	.	.	0.35	5261.36	292	chr11	1018290	.	G	A	5261.36	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.14;DP=2815;ExcessHet=15.1594;FS=18.65;InbreedingCoeff=-0.8182;MLEAC=7;MLEAF=0.35;MQ=55.31;MQRankSum=-9.462;QD=2.02;ReadPosRankSum=0.915;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:215,33:264:99:.:.:738,0,8928:.	3	0	7	0
chr11	1095032	1095032	-	CACCAACCACCACTCCCAGCTCTCCAATAACCACCACTCCCAGCCCTCCAACAACCACCATGACCACCCCTT	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0003	0.0002	0.0002	0.0010	0.0002	0.0002	0.0004	0.0003	0.0002	0.0003	0.0005	0.0006	0.0006	0.0010	0.0001	0.0002	0.0004	0.0010	0.0016	0.0010	0.0010	0.0033	0.0007	0.0007	0.0009	0.0005	0.0011	0	0.0014	0	0.0033	0.0006	0	0.0008	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	21222.1	124	chr11	1095032	.	C	CCACCAACCACCACTCCCAGCTCTCCAATAACCACCACTCCCAGCCCTCCAACAACCACCATGACCACCCCTT	21222.1	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.716;DP=839;ExcessHet=2.5225;FS=18.158;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.071;MQ=58.05;MQRankSum=0.725;QD=27.97;ReadPosRankSum=-6.788;SOR=1.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,46:65:99:0|1:1095032_C_CCACCAACCACCACTCCCAGCTCTCCAATAACCACCACTCCCAGCCCTCCAACAACCACCATGACCACCCCTT:1640,0,496:1095032	6	0	1	3
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	582.16	190	chr11	1096155	.	C	*	582.16	.	AC=6;AF=0.333;AN=18;BaseQRankSum=0.891;DP=5240;ExcessHet=8.3924;FS=0.551;InbreedingCoeff=-0.5278;MLEAC=6;MLEAF=0.333;MQ=55.84;MQRankSum=-3.048;QD=0.26;ReadPosRankSum=-4.847;SOR=0.736	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:273,171:444:99:0|1:1096151_AT_*:5757,0,10480:1096151	3	0	6	1
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3473.36	290	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	3473.36	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.79;DP=4369;ExcessHet=3.2736;FS=0;InbreedingCoeff=-0.3919;MLEAC=2;MLEAF=0.143;MQ=57.65;MQRankSum=-5.608;QD=1.86;ReadPosRankSum=0.636;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:273,72:439:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2358,0,10776:1096141	5	0	2	3
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1293.0	252	chr11	1096180	.	C	*	1293.0	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.242;DP=4319;ExcessHet=5.3821;FS=0.539;InbreedingCoeff=-0.5278;MLEAC=6;MLEAF=0.429;MQ=55.92;MQRankSum=-4.469;QD=0.74;ReadPosRankSum=-1.534;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:273,72:439:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2358,0,10776:1096141	2	0	5	3
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1288.98	254	chr11	1096181	.	C	*	1288.98	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.144;DP=4320;ExcessHet=5.3821;FS=0.539;InbreedingCoeff=-0.5278;MLEAC=6;MLEAF=0.429;MQ=55.94;MQRankSum=-4.522;QD=0.73;ReadPosRankSum=-1.305;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:273,72:439:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2358,0,10776:1096141	2	0	5	3
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1269.43	263	chr11	1096211	.	A	*	1269.43	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.64;DP=4341;ExcessHet=5.3821;FS=0;InbreedingCoeff=-0.6027;MLEAC=6;MLEAF=0.5;MQ=56.43;MQRankSum=-4.857;QD=0.68;ReadPosRankSum=6.96;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:273,72:439:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2358,0,10776:1096141	1	0	5	4
chr11	1096212	1096212	C	0	exonic	MUC2	.	.	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1268.43	261	chr11	1096212	.	C	*	1268.43	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.89;DP=4341;ExcessHet=5.3821;FS=0;InbreedingCoeff=-0.6027;MLEAC=6;MLEAF=0.5;MQ=56.5;MQRankSum=-4.926;QD=0.68;ReadPosRankSum=7.08;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:273,72:439:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2358,0,10776:1096141	1	0	5	4
chr11	1096594	1096594	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	524	971	22	3	2	30	0.0142132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449616483	0.0049	0.0047	0.0045	0.0054	0.0217	0.0048	0.0048	0.0208	0.0205	0.0007	0.0029	0.0078	0.0001	0.0020	0.0214	0.0039	0.0059	0.0217	0.0029	0.0034	0.0027	0.0032	0.0187	0.0027	0.0026	0.0150	0.0136	0.0007	0	0.0039	0.0058	0	0.0029	0.0248	0.0029	0.0074	0.0187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3440.14	115	chr11	1096594	.	C	A	3440.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.86;DP=1405;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=56.7;MQRankSum=2.5;QD=9.64;ReadPosRankSum=0.889;SOR=0.676	GT:AD:DP:GQ:PL	0/1:95,94:189:99:2022,0,2265	8	0	2	0
chr11	1630364	1630368	AGTCC	0	exonic	KRTAP5-5	.	.	.	.	439	687	51	4	341	400	0.0411724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4786.48	40	chr11	1630364	.	AGTCC	*	4786.48	.	AC=6;AF=0.3;AN=20;DP=1478;ExcessHet=0.3701;FS=2.566;InbreedingCoeff=0.1667;MLEAC=6;MLEAF=0.3;MQ=57.54;QD=4.74;SOR=0.928	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,87:146:99:0|1:1630310_C_G:5509,2241,1951:1630310	4	0	6	0
chr11	1630369	1630395	AGCTGCTGTAAGCCTTACTGCTGCCAG	0	exonic	KRTAP5-5	.	.	.	.	437	689	51	4	341	400	0.0410578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4769.48	40	chr11	1630369	.	AGCTGCTGTAAGCCTTACTGCTGCCAG	*	4769.48	.	AC=6;AF=0.3;AN=20;DP=1478;ExcessHet=0.3701;FS=1.818;InbreedingCoeff=0.1667;MLEAC=6;MLEAF=0.3;MQ=57.7;QD=4.76;SOR=0.87	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,87:146:99:0|1:1630310_C_G:5487,2215,1921:1630310	4	0	6	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	17335.9	40	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	*	17335.9	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.85;DP=1824;ExcessHet=0.6204;FS=1.237;InbreedingCoeff=0.0476;MLEAC=8;MLEAF=0.4;MQ=59.01;MQRankSum=-4.506;QD=12.68;ReadPosRankSum=0.914;SOR=0.8	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,87:146:99:1|1:1630310_C_G:3566,294,0:1630310	4	2	4	0
chr11	1761383	1761383	C	T	exonic	CTSD	.	nonsynonymous SNV	CTSD:NM_001909:exon2:c.G154A:p.V52I	Ceroid lipofuscinosis, neuronal, 10, Autosomal recessive	0	1517	3	2	0	7	0.00230187	.	.	YES	202549	not_provided|Neuronal_ceroid_lipofuscinosis|Inborn_genetic_diseases|Neuronal_ceroid_lipofuscinosis_10	MedGen:C3661900|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012414,MedGen:C1864669,OMIM:610127,Orphanet:228337	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.020	0.0430530342969	0.0002	0.000399361	0.0003	0.0003	0.0009	0.0028	0	3.032e-05	0.0011	6.058e-05	0.0002846	44	154602	rs143517230	9.1e-05	9.166e-05	0.0001	7.152e-05	0.0017	7.825e-05	7.307e-05	0.0009	0.0008	0.0003	0.0003	0	0.0012	0	0.0017	4.137e-05	0.0001	1.159e-05	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0001	0.0012	0.0009	0.0002	0	0.0005	0	0.0021	0	0	8.821e-05	0	0	0.819	0.03218	T	0.496	0.11335	T	0.0	0.02946	B	0.001	0.04355	B	0.413738	0.04607	N	1.637160	1	0.08975	N	-0.865	0.01458	N	0.59	0.63077	T	0.18	0.05917	N	0.098	0.07949	-1.0458	0.15592	T	0.101	0.37443	T	10	0.006499797	0.00147	T	0.043053	0.60786	D	0.020	0.03691	.	.	0.119812018005	0.11559	0.22215873469311648	0.22130	0.402147105335	0.41176	0.305395066738	0.11210	T	0.245469	0.61477	T	-0.591096	0.00165	T	-0.623318	0.10926	T	0.00139181355848336	0.00014	T	0.09989	0.00820	T	0.013902123	0.00074	0.018745264	0.00065	0.013902123	0.00073	0.018745264	0.00065	-4.405	0.29625	T	.	.	0.069	0.05404	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	0.335410	0.07092	3.664	0.79584787589665407	0.12808	0.02699	0.07344	N	AEFDBCI	0.094511	0.19108	N	-1.80675651760129	0.00529	0.02276623	-1.90250944337841	0.00484	0.02144554	0.999999994040486	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.71	-7.43	0.01238	-0.621000	0.05655	-2.140000	0.04154	-2.028000	0.00431	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.109:0.2085:0.5494:0.1331	5.824	0.17800	982	0.03397	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	712.43	34	chr11	1761383	.	C	T	712.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.88;DP=373;ExcessHet=0;FS=1.055;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.373;SOR=0.976	GT:AD:DP:GQ:PL	0/1:25,29:54:99:724,0,507	9	0	1	0
chr11	5857379	5857379	G	C	exonic	OR52E8	.	nonsynonymous SNV	OR52E8:NM_001005168:exon1:c.C324G:p.F108L	.	427	1061	33	1	0	35	0.0162262	.	.	.	2816389	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.130	0.0250156923971	0.0040	0.00239617	0.0042	0.0012	0.0021	0	0.0017	0.0063	0.0066	0.0021	0.0039456	610	154602	rs148345924	0.0040	0.0040	0.0039	0.0041	0.0123	0.0039	0.0038	0.0100	0.0092	0.0009	0.0023	0.0336	0	0.0017	0.0123	0.0036	0.0064	0.0023	0.0037	0.0037	0.0040	0.0034	0.0045	0.0034	0.0033	0.0038	0.0037	0.0008	0.0011	0.0045	0.0351	0	0.0016	0.0136	0.0042	0.0062	0.0014	0.004	0.65419	D	0.004	0.74150	D	0.338	0.33405	B	0.216	0.37572	B	0.000021	0.62929	D	0.000000	1	0.81001	D	2.73	0.79844	M	7.57	0.00366	T	-5.58	0.86450	D	0.344	0.38541	-0.8344	0.53015	T	0.001	0.00378	T	10	0.0054122508	0.00119	T	0.025016	0.48002	D	0.130	0.35528	0.323	0.30387	0.176091768786	0.17195	0.08784436847178947	0.08717	0.00376051316939	0.00325	0.270828843117	0.06249	T	0.009394	0.08559	T	-0.519226	0.00445	T	-0.517655	0.20533	T	0.0639543417605828	0.07775	T	0.732627	0.34815	T	0.69594866	0.77835	0.6118418	0.77417	0.69594866	0.77837	0.6118418	0.77418	-8.538	0.64680	D	.	.	0.773	0.76045	P	.	.	2.057648	0.26162	17.02	0.99877145999454897	0.95410	0.44575	0.27348	N	AEFI	0.345156	0.44041	N	-0.126603212154015	0.36235	2.091855	-0.161731560699526	0.32959	1.880391	3.89146647494055E-4	0.06781	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.24	4.24	0.49486	0.171000	0.16497	.	.	0.649000	0.52879	0.050000	0.21411	0.000000	0.08366	0.016000	0.10718	0.0987:0.0:0.9013:0.0	10.307	0.42866	737	0.53483	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	0	0	1	0	0.015641	0.005051	0.023098	0.014881	0.000000	0.017241	0.012195	0.003788	0.05	2265.43	34	chr11	5857379	.	G	C	2265.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.941;DP=524;ExcessHet=0;FS=1.128;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=1.43;SOR=0.791	GT:AD:DP:GQ:PL	0/1:97,91:188:99:2277,0,2468	9	0	1	0
chr11	6612173	6612173	G	A	exonic	TAF10	.	nonsynonymous SNV	TAF10:NM_006284:exon1:c.C17T:p.S6F	.	497	1024	1	0	0	1	0.000488043	.	.	.	2335204	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.0414535104539	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1016434501	9.497e-05	8.209e-05	7.891e-05	0.0001	0.0008	7.949e-05	7.375e-05	0.0001	8.343e-05	0	0	0	0	0	0.0008	0.0001	2.514e-05	0	3.963e-05	3.941e-05	6.454e-05	1.353e-05	7.375e-05	1.723e-05	1.134e-05	2.854e-05	1.864e-05	2.42e-05	0	0	0	0	0	0	7.375e-05	0	0	0.092	0.31682	T	0.12	0.35970	T	0.001	0.07471	B	0.001	0.04355	B	0.052688	0.22873	N	0.348023	0.778987	0.29354	N	0.205	0.09354	N	0.82	0.48142	T	-0.41	0.14000	N	0.214	0.23884	-1.0627	0.11093	T	0.059	0.24723	T	10	0.079520434	0.12801	T	0.041454	0.59937	D	0.081	0.23632	0.199	0.11247	0.171220215726	0.16700	0.323713228342783	0.32284	0.627975423405	0.56873	0.886234998703	0.94783	D	0.092678	0.39053	T	-0.160555	0.26675	T	-0.468402	0.25688	T	0.240599605884785	0.22447	T	0.618838	0.23746	T	0.14195888	0.32688	0.2279458	0.47821	0.14195888	0.32688	0.2279458	0.47820	-6.731	0.52043	T	.	.	0.194	0.41464	B	.	.	4.682322	0.74937	26.2	0.95792811913327569	0.27836	0.48434	0.28206	N	AEFGBHCIJ	.	.	.	-0.428753029566688	0.24465	1.32123	-0.2189826263307	0.30856	1.740966	0.999999999999999	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	5.29	3.31	0.37025	2.987000	0.49066	6.426000	0.55624	0.668000	0.69082	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.1743:0.1566:0.6691:0.0	6.169	0.19621	506	0.75555	.	.	.	.	.	.	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	146.11	.	chr11	6612173	.	G	A	146.11	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.21;DP=48;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=24.35;ReadPosRankSum=0.674;SOR=0.707	GT:AD:DP:GQ:PL	0/1:1,5:6:22:156,0,22	8	0	1	1
chr11	8140017	8140017	G	A	exonic	RIC3	.	nonsynonymous SNV	RIC3:NM_001206671:exon2:c.C301T:p.P101S,RIC3:NM_001206672:exon2:c.C301T:p.P101S,RIC3:NM_001346691:exon2:c.C301T:p.P101S,RIC3:NM_024557:exon2:c.C301T:p.P101S,RIC3:NM_001346692:exon3:c.C154T:p.P52S,RIC3:NM_001346693:exon3:c.C154T:p.P52S,RIC3:NM_001346694:exon3:c.C154T:p.P52S	.	428	1082	12	0	0	12	0.00551471	.	.	.	3539185	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.833	0.130872980439	0.0031	0.000599042	0.0027	0.0007	0.0009	0.0006	0.0009	0.0041	0.0044	0.0015	0.0026778	414	154602	rs144806410	0.0029	0.0029	0.0029	0.0028	0.0036	0.0028	0.0028	0.0030	0.0029	0.0006	0.0013	0.0112	0.0002	0.0017	0.0036	0.0030	0.0029	0.0016	0.0021	0.0021	0.0021	0.0022	0.0030	0.0020	0.0019	0.0026	0.0025	0.0007	0	0.0009	0.0153	0.0010	0.0010	0.0034	0.0030	0.0019	0.0012	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.595	0.75868	M	-1.54	0.81640	D	-7.16	0.94171	D	0.921	0.92667	0.538	0.91077	D	0.715	0.90221	D	10	0.027805716	0.00920	T	0.130873	0.81307	D	0.833	0.94728	.	.	0.880416553741	0.87924	0.8763778918380538	0.87604	0.35463631042	0.37235	0.780313491821	0.78975	T	0.203809	0.56239	T	0.102815	0.64595	D	0.374629	0.91237	D	0.0445792020432268	0.04526	T	0.952005	0.82846	D	0.846962	0.87112	0.82708853	0.89995	0.846962	0.87113	0.82708853	0.89996	-12.031	0.85002	D	.	.	0.906	0.85639	P	.;.;.;.;.	.;.;.;.;.	5.049075	0.84086	28.2	0.99911045710102608	0.98022	0.98421	0.82603	D	AEFBI	0.891571	0.82766	D	0.9166118552272	0.92548	11.48755	0.882915564737894	0.94784	13.040	0.999999987352972	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.6	5.6	0.84997	8.527000	0.90409	11.883000	0.98886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.628	0.95679	724	0.55085	Resistance to inhibitors of cholinesterase protein 3, N-terminal;Resistance to inhibitors of cholinesterase protein 3, N-terminal;.;Resistance to inhibitors of cholinesterase protein 3, 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	0.001511	0.000000	0.001359	0.002924	0.100000	0.000000	0.000000	0.003788	0.05	1203.43	34	chr11	8140017	.	G	A	1203.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.586;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.43;SOR=0.66	GT:AD:DP:GQ:PL	0/1:55,49:104:99:1215,0,1523	9	0	1	0
chr11	10559867	10559867	G	A	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C731T:p.A244V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0316624712336	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1011426411	1.382e-05	1.372e-05	1.79e-05	9.716e-06	0.0009	9.03e-06	7.34e-06	0.0003	0.0002	3.015e-05	0	0	0	0	0.0009	1.184e-05	0	1.164e-05	1.322e-05	1.316e-05	1.291e-05	1.354e-05	1.473e-05	2.2e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.473e-05	0	0	0.116	0.91255	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999982	0.54805	D	1.995	0.54099	M	2.74	0.57100	T	-1.72	0.74051	N	0.743	0.83371	-0.4509	0.70370	T	0.344	0.70940	T	10	0.7525157	0.75742	D	0.031662	0.53686	D	0.222	0.51872	0.383	0.40134	0.752590173691	0.75035	0.5316431793870309	0.53089	0.438298358417	0.43869	0.586091697216	0.50943	T	0.380784	0.74325	T	0.128026	0.67169	D	-0.0538753	0.66757	D	0.953589856624603	0.64061	D	0.849515	0.57326	T	0.22611228	0.45285	0.23588851	0.48845	0.22611228	0.45285	0.23588851	0.48844	-4.267	0.27712	T	.	.	0.576	0.75037	P	.;.	.;.	4.864352	0.79626	27.1	0.99869083234187406	0.94726	0.94107	0.60133	D	AEFI	0.863055	0.78149	D	0.767749876461228	0.84054	8.182144	0.746411232723111	0.85890	8.717017	0.934815928530212	0.27187	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.124000	0.71349	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.043	0.89248	516	0.74704	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	281.74	73	chr11	10559867	.	G	A	281.74	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-3.365;DP=886;ExcessHet=1.5895;FS=223.429;InbreedingCoeff=-0.333;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=0.159;SOR=9.766	GT:AD:DP:GQ:PL	0/1:69,31:100:94:94,0,1192	4	0	4	2
chr11	12162246	12162246	G	A	exonic	MICAL2	.	nonsynonymous SNV	MICAL2:NM_001282666:exon1:c.G91A:p.A31T,MICAL2:NM_001282667:exon1:c.G91A:p.A31T,MICAL2:NM_001282664:exon2:c.G91A:p.A31T,MICAL2:NM_001282665:exon2:c.G91A:p.A31T,MICAL2:NM_001346292:exon2:c.G91A:p.A31T,MICAL2:NM_001346294:exon2:c.G91A:p.A31T,MICAL2:NM_001346298:exon2:c.G91A:p.A31T,MICAL2:NM_001282663:exon3:c.G91A:p.A31T,MICAL2:NM_001282668:exon3:c.G91A:p.A31T,MICAL2:NM_001346293:exon3:c.G91A:p.A31T,MICAL2:NM_001346295:exon3:c.G91A:p.A31T,MICAL2:NM_001346296:exon3:c.G91A:p.A31T,MICAL2:NM_001346297:exon3:c.G91A:p.A31T,MICAL2:NM_001346299:exon3:c.G91A:p.A31T,MICAL2:NM_014632:exon3:c.G91A:p.A31T	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.00808266473886	0.0004	.	0.0005	0	0.0005	0	0	0.0008	0.0011	0.0002	0.0004722	73	154602	rs200146203	0.0004	0.0004	0.0003	0.0004	0.0009	0.0003	0.0003	0.0006	0.0005	5.974e-05	0.0008	0.0088	0	0	0.0009	0.0002	0.0007	0.0003	0.0006	0.0006	0.0005	0.0007	0.0025	0.0005	0.0005	0.0019	0.0016	0	0	0.0025	0.0104	0	0	0	0.0002	0.0014	0.0002	0.277	0.44029	T	0.017	0.60337	D	0.946	0.53363	P	0.78	0.57283	P	0.000003	0.62929	D	0.059635	1	0.81001	D	2.52	0.73523	M	1.43	0.32958	T	-3.99	0.73893	D	0.713	0.71587	-0.9774	0.35593	T	0.183	0.53103	T	10	0.011146426	0.00245	T	0.008083	0.21418	T	0.334	0.65620	.	.	0.526232973257	0.52269	0.7189187545597616	0.71834	1.38635000545	0.84895	0.737376570702	0.72587	T	0.098828	0.40667	T	-0.133461	0.30936	T	-0.0475166	0.67192	D	0.116546905158825	0.14088	T	0.962304	0.85835	D	0.4384811	0.63304	0.42373607	0.66235	0.4384811	0.63305	0.42373607	0.66235	-9.996	0.73888	D	.	.	0.199	0.59177	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.670272	0.74633	26.2	0.99877991208321448	0.95491	0.99301	0.94181	D	AEFBI	0.914726	0.87849	D	0.72539311790473	0.81298	7.489242	0.761182380984499	0.86990	9.070072	1.0	0.98316	0.722319	0.85440	0	0.588066	0.40923	0	0.618467	0.43123	0	0.735409	0.98432	0	.	.	5.55	5.55	0.83298	10.003000	0.99689	11.815000	0.97057	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	19.291	0.94085	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	.	.	.	.	.	.	.	.	0.05	1409.43	36	chr11	12162246	.	G	A	1409.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.103;DP=469;ExcessHet=0;FS=0.622;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=1.07;SOR=0.591	GT:AD:DP:GQ:PL	0/1:84,62:146:99:1421,0,2082	9	0	1	0
chr11	19949059	19949059	G	A	exonic	NAV2	.	nonsynonymous SNV	NAV2:NM_145117:exon10:c.G2624A:p.R875Q,NAV2:NM_182964:exon10:c.G2624A:p.R875Q,NAV2:NM_001111018:exon11:c.G2432A:p.R811Q,NAV2:NM_001244963:exon11:c.G2693A:p.R898Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0414227394037	0.0002	0.000199681	0.0001	0.0002	0	0.0016	0	0	0	7.043e-05	0.0001164	18	154602	rs201014298	6.115e-05	6.294e-05	5.873e-05	6.361e-05	0.0011	5.05e-05	4.692e-05	0.0008	0.0007	0.0002	0	0	0.0011	0	0	2.618e-05	4.993e-05	9.362e-05	0.0001	0.0001	0.0001	0.0001	0.0019	7.088e-05	5.745e-05	0.0010	0.0008	9.628e-05	0	6.534e-05	0	0.0019	0	0	1.47e-05	0.0005	0	0.006	0.65419	D	0.078	0.43721	T	0.995	0.77913	D	0.49	0.68939	P	0.000012	0.62929	D	0.000000	1	0.81001	D	2.645	0.77386	M	1.51	0.30937	T	-1.57	0.37955	N	0.515	0.54584	-1.0213	0.23292	T	0.149	0.47522	T	9	0.023302704	0.00606	T	0.041423	0.59921	D	0.201	0.48592	.	.	0.243187853663	0.23924	0.3410119060783501	0.34014	0.709207124474	0.61595	0.491287857294	0.37617	T	0.033369	0.50150	T	-0.106948	0.35274	T	0.0489732	0.73517	D	0.14243882894516	0.16483	T	0.917308	0.70348	D	0.15426962	0.34926	0.17259745	0.39527	0.15426962	0.34926	0.17259745	0.39526	-8.002	0.62888	D	.	.	0.130	0.33179	B	.;.;.;.;.;.	.;.;.;.;.;.	4.739443	0.76411	26.5	0.99955456139595533	0.99975	0.99552	0.97362	D	AEFBI	0.910666	0.86887	D	0.557696588901359	0.70553	5.518298	0.574801499378679	0.73137	5.921779	0.999999999999962	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	7.920000	0.86928	9.997000	0.83020	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	19.488	0.95031	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	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1536.43	39	chr11	19949059	.	G	A	1536.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.18;DP=429;ExcessHet=0;FS=6.105;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.22;ReadPosRankSum=0.523;SOR=0.132	GT:AD:DP:GQ:PL	0/1:28,48:76:99:1548,0,861	9	0	1	0
chr11	26721693	26721693	C	T	exonic	SLC5A12	.	nonsynonymous SNV	SLC5A12:NM_178498:exon1:c.G22A:p.V8I	.	425	1060	36	1	0	38	0.0176089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	.	0.0025	0.0203674	0.0088	0.0031	0.0022	0.0611	0.0032	0.0044	0.0079	0.0092	0.0085769	1326	154602	rs113908376	0.0055	0.0055	0.0053	0.0057	0.0777	0.0054	0.0053	0.0754	0.0745	0.0045	0.0026	0.0129	0.0777	0.0034	0.0415	0.0023	0.0088	0.0097	0.0059	0.0059	0.0059	0.0059	0.0662	0.0056	0.0055	0.0604	0.0582	0.0035	0	0.0031	0.0130	0.0662	0.0024	0.0442	0.0031	0.0090	0.0112	0.27	0.17069	T	0.246	0.23984	T	0.027	0.19556	B	0.015	0.17295	B	0.750577	0.09703	N	0.877530	1	0.08975	N	0.885	0.21608	L	-1.95	0.85003	D	-0.65	0.18877	N	0.04	0.03613	-0.9578	0.39589	T	0.086	0.33522	T	10	0.0024740994	0.00037	T	.	.	.	0.132	0.35948	.	.	0.163833314356	0.15978	0.06215875893013715	0.06155	0.154448843171	0.17448	0.238343030214	0.02643	T	0.006942	0.06364	T	-0.539797	0.00336	T	-0.4725	0.25246	T	0.00137920736496509	0.00014	T	0.448855	0.12628	T	0.033720206	0.03648	0.04206866	0.04925	0.033720206	0.03647	0.04206866	0.04925	-4.289	0.28023	T	.	.	0.072	0.07083	B	.;.	.;.	0.922954	0.12977	9.485	0.84574392258224262	0.15372	0.14310	0.18335	N	AEFI	0.172967	0.30002	N	-1.43860197420556	0.02308	0.1017523	-1.35497813986167	0.03747	0.1754482	0.25811658146829	0.18758	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	2.53	0.29594	0.132000	0.15716	0.811000	0.21752	-1.974000	0.00467	0.000000	0.06391	0.000000	0.08366	0.820000	0.38637	0.1026:0.6453:0.1004:0.1517	6.128	0.19406	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.044814	0.020202	0.046196	0.114035	0.050000	0.051724	0.015244	0.026515	0.05	1602.43	35	chr11	26721693	.	C	T	1602.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.051;DP=419;ExcessHet=0;FS=1.633;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=-0.708;SOR=0.542	GT:AD:DP:GQ:PL	0/1:46,60:106:99:1614,0,1230	9	0	1	0
chr11	31102205	31102205	T	C	exonic	DCDC1	.	nonsynonymous SNV	DCDC1:NM_001367979:exon15:c.A1955G:p.D652G	.	442	1075	4	1	0	6	0.00278293	.	.	.	3211206	DCDC1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0042	0.00279553	0.0074	0.0007	0.0051	0.0012	0.0091	0.0112	0.0099	0.0032	0.00315	487	154602	rs183555899	0.0043	0.0043	0.0042	0.0045	0.0054	0.0042	0.0041	0.0052	0.0051	0.0008	0.0024	0.0045	0.0002	0.0064	0.0015	0.0054	0.0041	0.0026	0.0035	0.0035	0.0034	0.0035	0.0055	0.0032	0.0031	0.0050	0.0048	0.0009	0	0.0025	0.0040	0.0004	0.0036	0	0.0055	0.0019	0.0050	.	.	.	0.035	0.52389	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	0.45636	T	.	.	.	0.548	0.57433	.	.	.	.	.	.	.	0.009990722	0.00224	T	.	.	.	.	.	.	.	0.562131562789	0.55876	.	.	.	.	0.353466331959	0.18431	T	.	.	.	-0.436637	0.01353	T	-0.394707	0.34001	T	.	.	.	0.518948	0.16858	T	.	.	.	.	.	.	.	.	-3.798	0.20775	T	.	.	0.171	0.37577	B	.	.	3.046077	0.40854	21.2	0.88470436198428626	0.18002	0.71361	0.34980	D	AEFI	0.099478	0.20023	N	.	.	.	.	.	.	5.33723297510802E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.11	3.96	0.45097	2.161000	0.41985	2.191000	0.31208	0.665000	0.62972	0.950000	0.33075	0.056000	0.21938	0.899000	0.43558	0.0:0.0:0.1739:0.8261	10.246	0.42521	379	0.83778	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	680.43	36	chr11	31102205	.	T	C	680.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.647;DP=378;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=0.319;SOR=0.646	GT:AD:DP:GQ:PL	0/1:36,33:69:99:692,0,747	9	0	1	0
chr11	31430384	31430384	C	T	exonic	DNAJC24	.	nonsynonymous SNV	DNAJC24:NM_181706:exon5:c.C433T:p.L145F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0243026690673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.012	0.63918	D	.	.	.	.	.	.	0.000578	0.43250	D	0.189991	0.745763	0.33872	D	.	.	.	1.45	0.32482	T	-2.07	0.47344	N	0.238	0.26837	-1.0248	0.22148	T	0.099	0.36856	T	10	0.25963157	0.43402	T	0.024303	0.47287	T	0.159	0.41286	.	.	0.483301346737	0.47961	0.628431862284808	0.62776	0.421294858915	0.42638	0.452863872051	0.32335	T	0.338285	0.70757	T	-0.181412	0.23525	T	-0.498362	0.22517	T	0.768617601559289	0.44356	D	0.743326	0.36245	T	0.093211345	0.21886	0.11312494	0.27300	0.093211345	0.21886	0.11312494	0.27300	-5.66	0.43335	T	.	.	0.223	0.45483	B	.	.	3.167548	0.42947	21.6	0.99807894123297425	0.89174	0.76642	0.37605	D	AEFBI	0.221904	0.34647	N	0.0532000653145887	0.44289	2.705728	-0.0315434559698925	0.38298	2.254394	3.01293924114846E-4	0.06454	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.42	2.23	0.27189	2.233000	0.42672	2.902000	0.35456	-0.273000	0.06669	1.000000	0.71638	1.000000	0.68203	0.771000	0.36558	0.3823:0.398:0.122:0.0978	2.713	0.04861	473	0.77910	Zinc finger, DPH-type|Zinc finger, DPH-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	.	.	.	.	.	.	.	.	0.1	73.14	72	chr11	31430384	.	C	T	73.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.951;DP=817;ExcessHet=0.2348;FS=248.454;InbreedingCoeff=-0.1107;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=2.32;SOR=9.541	GT:AD:DP:GQ:PL	0/1:76,28:104:68:68,0,1568	8	0	2	0
chr11	32602822	32602823	TG	-	exonic	CCDC73	.	frameshift deletion	CCDC73:NM_001008391:exon18:c.3228_3229del:p.N1076Kfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.784e-06	2.736e-06	4.151e-06	1.401e-06	0.0002	6.5e-07	4.4e-07	7.3e-07	2e-07	0	0	0	0	0	0.0002	2.731e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	273.39	28	chr11	32602821	.	CTG	C	273.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.05;DP=188;ExcessHet=0;FS=1.8;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-1.605;SOR=1.356	GT:AD:DP:GQ:PL	0/1:17,8:25:99:285,0,690	9	0	1	0
chr11	35204536	35204536	C	T	exonic	CD44	.	nonsynonymous SNV	CD44:NM_001001389:exon9:c.C1049T:p.T350M,CD44:NM_000610:exon10:c.C1178T:p.T393M	.	422	1064	35	1	0	37	0.0170901	.	.	.	701741	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0072	0.00359425	0.0073	0.0013	0.0112	0	0.0083	0.0090	0.0132	0.0042	0.0075225	1163	154602	rs11607491	0.0080	0.0080	0.0081	0.0080	0.0106	0.0079	0.0078	0.0093	0.0090	0.0018	0.0101	0.0151	2.52e-05	0.0073	0.0106	0.0086	0.0080	0.0040	0.0067	0.0067	0.0067	0.0068	0.0106	0.0064	0.0063	0.0093	0.0088	0.0015	0.0143	0.0106	0.0121	0.0002	0.0060	0.0170	0.0094	0.0095	0.0035	0.142	0.31383	T	0.167	0.43913	T	0.003	0.23997	B	0.002	0.14300	B	0.989912	0.08037	N	0.994922	1	0.08975	N	1.04	0.26193	L	1.8	0.25344	T	-1.98	0.50666	N	0.093	0.07398	-0.9996	0.30030	T	0.021	0.08639	T	10	0.004863858	0.00104	T	.	.	.	0.062	0.17934	.	.	0.20549828249	0.20151	0.16050849875260592	0.15971	0.0537663119061	0.05938	0.231335908175	0.02068	T	0.293873	0.66656	T	-0.537071	0.00349	T	-0.534847	0.18805	T	0.00397361201338003	0.00042	T	0.70043	0.31009	T	0.013736582	0.00068	0.035582725	0.02838	0.013736582	0.00068	0.035582725	0.02838	-5.967	0.49369	T	.	.	0.090	0.15788	B	.;.;.;.	.;.;.;.	0.547991	0.09168	5.949	0.85254983741076129	0.15779	0.05659	0.11573	N	AEFGBCI	0.107172	0.21361	N	-1.29313677901067	0.03757	0.1684061	-1.2975289000714	0.04465	0.2106341	0.997660974927555	0.35879	0.615465	0.37627	0	0.577304	0.33150	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.05	-0.388	0.11838	0.122000	0.15515	-1.466000	0.05376	-1.681000	0.00785	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1598:0.4188:0.1554:0.266	1.034	0.01449	882	0.29131	.;.;.;.	.	.	.	.	.	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	0.007553	0.000000	0.012228	0.000000	0.000000	0.008621	0.021341	0.003788	0.05	2086.43	33	chr11	35204536	.	C	T	2086.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.808;DP=475;ExcessHet=0;FS=0.597;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-0.315;SOR=0.771	GT:AD:DP:GQ:PL	0/1:71,83:154:99:2098,0,1646	9	0	1	0
chr11	44073460	44073460	A	T	exonic	ACCS	.	nonsynonymous SNV	ACCS:NM_001127219:exon4:c.A362T:p.D121V,ACCS:NM_032592:exon4:c.A362T:p.D121V	.	413	1105	4	0	0	4	0.00180668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.685	0.071617655569	.	0.000399361	0.0004	0	0.0001	0.0002	0	0	0	0.0028	0.0002458	38	154602	rs572810826	0.0001	0.0001	6.144e-05	0.0002	0.0020	0.0001	0.0001	0.0018	0.0017	2.997e-05	0	0	0	0	0.0002	8.11e-06	0.0002	0.0020	7.221e-05	7.217e-05	6.423e-05	8.055e-05	0.0017	3.967e-05	3.124e-05	0.0008	0.0006	0	0	0	0	0	0	0	4.409e-05	0	0.0017	0.0	0.91255	D	0.078	0.45110	T	0.991	0.64070	D	0.955	0.69585	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.52	0.73523	M	0.76	0.91533	T	-8.67	0.97580	D	0.821	0.81658	0.944	0.96309	D	0.882	0.96085	D	10	0.19298527	0.35049	T	0.071618	0.71318	D	0.685	0.88490	.	.	0.911976214087	0.91109	0.7333872230634642	0.73283	0.56141633147	0.52646	0.473071753979	0.35102	T	0.139755	0.76374	T	0.138606	0.68192	D	0.421395	0.92787	D	0.502840459346771	0.32733	D	0.867113	0.58193	D	0.5774353	0.71468	0.39952594	0.64513	0.5774353	0.71469	0.39952594	0.64513	-13.122	0.89858	D	.	.	0.742	0.74697	P	.;.	.;.	4.041250	0.59833	24.1	0.99295389710550586	0.58433	0.99112	0.91402	D	AEFDBHI	0.674866	0.64044	D	0.657333129922732	0.76844	6.562012	0.560812187560826	0.72152	5.765105	0.99998660801123	0.51787	0.719381	0.83141	0	0.723133	0.82719	0	0.616094	0.41390	0	0.491896	0.07777	0	.	.	5.51	5.51	0.81769	5.377000	0.65937	7.797000	0.69042	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.123000	0.19290	1.0:0.0:0.0:0.0	13.857	0.63029	872	0.31118	.;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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1546.43	33	chr11	44073460	.	A	T	1546.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.796;DP=450;ExcessHet=0;FS=0.667;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.781;SOR=0.763	GT:AD:DP:GQ:PL	0/1:60,65:125:99:1558,0,1462	9	0	1	0
chr11	46435032	46435032	C	T	exonic	AMBRA1	.	nonsynonymous SNV	AMBRA1:NM_001300731:exon12:c.G2458A:p.V820M,AMBRA1:NM_001367469:exon12:c.G2101A:p.V701M,AMBRA1:NM_001267783:exon13:c.G2281A:p.V761M,AMBRA1:NM_001367468:exon13:c.G2638A:p.V880M,AMBRA1:NM_001367470:exon14:c.G1831A:p.V611M,AMBRA1:NM_001367471:exon14:c.G2368A:p.V790M,AMBRA1:NM_017749:exon14:c.G2368A:p.V790M,AMBRA1:NM_001267782:exon15:c.G2647A:p.V883M	.	.	.	.	.	.	.	.	.	.	.	2680672	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.046640939027	7.7e-05	.	7.519e-05	0	0.0004	0	0	7.809e-05	0	0	5.17e-05	8	154602	rs377069728	2.41e-05	2.463e-05	2.463e-05	2.356e-05	0.0002	1.75e-05	1.549e-05	7.528e-05	5.318e-05	0	0.0002	0	7.594e-05	0	0.0002	2.077e-05	0	1.179e-05	2.631e-05	2.628e-05	1.285e-05	4.04e-05	0.0002	8.15e-06	5.14e-06	.	.	2.416e-05	0	0	0	0.0002	9.439e-05	0	1.471e-05	0	0	0.011	0.57480	D	0.021	0.64786	D	0.392	0.34646	B	0.07	0.27859	B	0.000000	0.84330	D	0.000000	0.994933	0.42476	D	1.39	0.34934	L	-0.49	0.71662	T	-0.86	0.27052	N	0.309	0.34981	-0.8235	0.53714	T	0.178	0.52427	T	10	0.11616063	0.21905	T	0.046641	0.62555	D	0.070	0.20419	.	.	0.298199939746	0.29431	0.562858974719493	0.56212	1.19436433479	0.80347	0.754379749298	0.75093	T	0.026641	0.55616	T	-0.254526	0.13548	T	-0.313242	0.43309	T	0.130296129827606	0.15409	T	0.892211	0.69822	D	0.12275195	0.28838	0.14058124	0.33506	0.12275195	0.28838	0.14058124	0.33505	-11.522	0.82445	D	.	.	0.193	0.52736	B	.;.;.;.;.	.;.;.;.;.	4.108171	0.61310	24.3	0.99854189304134866	0.93279	0.93958	0.59687	D	AEFBI	0.194654	0.32173	N	-0.255073161527022	0.30902	1.727476	-0.0856737335707558	0.35981	2.088286	0.995429575743126	0.34119	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	4.1	0.47196	2.681000	0.46592	1.446000	0.26567	-0.193000	0.09282	0.986000	0.36153	0.815000	0.27074	0.996000	0.76049	0.0:0.7991:0.0:0.2009	10.311	0.42891	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	.	.	.	.	.	.	.	.	0.05	387.43	27	chr11	46435032	.	C	T	387.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.871;DP=289;ExcessHet=0;FS=3.732;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-2.25;SOR=0.214	GT:AD:DP:GQ:PL	0/1:17,15:32:99:399,0,417	9	0	1	0
chr11	55773543	55773543	G	A	exonic	OR5D13	.	nonsynonymous SNV	OR5D13:NM_001001967:exon1:c.G106A:p.V36I	.	435	991	89	7	0	103	0.0494005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0094	0.0071885	0.0094	0.0038	0.0055	0.0002	0.0029	0.0124	0.0165	0.0105	0.0093078	1439	154602	rs147031394	0.0096	0.0096	0.0093	0.0099	0.0541	0.0095	0.0094	0.0492	0.0472	0.0040	0.0080	0.0194	2.52e-05	0.0024	0.0541	0.0099	0.0116	0.0108	0.0090	0.0090	0.0092	0.0087	0.0143	0.0086	0.0084	0.0128	0.0122	0.0041	0	0.0143	0.0214	0.0002	0.0018	0.0408	0.0115	0.0133	0.0123	.	.	.	.	.	.	0.002	0.09854	B	0.001	0.04355	B	0.859837	0.08903	N	0.894418	1	0.08975	N	-1.24	0.00794	N	.	.	.	.	.	.	.	.	-0.9992	0.30143	T	0.000	0.00075	T	10	0.0063220263	0.00143	T	.	.	.	.	.	.	.	.	.	0.026461992922624716	0.02596	.	.	0.204620480537	0.00603	T	9.57E-4	0.00501	T	-0.821085	0.00005	T	-0.94182	0.00289	T	0.00201569703242085	0.00021	T	0.758424	0.38228	T	0.03243204	0.03267	0.031081052	0.01648	0.03243204	0.03267	0.031081052	0.01647	-1.204	0.01256	T	.	.	0.070	0.03625	B	.	.	-1.707520	0.00192	0.003	0.086283404533563965	0.00071	0.00206	0.01180	N	AEFI	0.014591	0.00239	N	-1.7650134367774	0.00637	0.02745338	-1.79490174311532	0.00776	0.03459685	1.58383268683026E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.52	-4.35	0.03402	-2.708000	0.00890	-10.712000	0.00673	-2.110000	0.00390	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3984:0.0:0.342:0.2596	4.036	0.09214	154	0.93967	.	.	.	.	.	.	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	0.036757	0.015152	0.031250	0.052632	0.050000	0.077586	0.021341	0.037879	0.1	2826.14	36	chr11	55773543	.	G	A	2826.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.192;DP=519;ExcessHet=0.2348;FS=5.18;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.756;SOR=1.008	GT:AD:DP:GQ:PL	0/1:62,69:131:99:1642,0,1437	8	0	2	0
chr11	56232152	56232152	C	T	exonic	OR5T2	.	nonsynonymous SNV	OR5T2:NM_001004746:exon2:c.G1034A:p.G345E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00545914372308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.025e-07	5.473e-06	1.397e-06	0	2.746e-05	0	0	.	.	0	2.746e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.757	0.03512	T	0.656	0.06598	T	0.0	0.02946	B	0.001	0.04355	B	0.677840	0.10284	U	0.801799	1	0.08975	N	0.59	0.15444	N	1.13	0.38556	T	-0.27	0.11366	N	0.1	0.08227	-0.9699	0.37220	T	0.042	0.17910	T	10	0.05990079	0.07273	T	0.005459	0.14045	T	0.018	0.03083	0.357	0.35897	0.0297737177859	0.01360	0.06388371870701114	0.06327	0.00246300865135	0.00212	0.195761352777	0.00344	T	0.002916	0.02309	T	-0.387663	0.02785	T	-0.794628	0.02040	T	0.0230733904977091	0.01032	T	0.20398	0.02363	T	0.060854424	0.12535	0.046174176	0.06377	0.060854424	0.12534	0.046174176	0.06377	-5.452	0.41417	T	.	.	0.100	0.23219	B	.;.	.;.	-0.669596	0.01392	0.081	0.37697994307395438	0.02499	0.00213	0.01210	N	AEFI	0.019794	0.00720	N	-1.5905100328211	0.01312	0.05715967	-1.71707041097745	0.01064	0.04776219	0.0841018253829391	0.15946	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.76	-9.53	0.00484	-2.056000	0.01484	.	.	-0.436000	0.05186	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.0932:0.1821:0.1861:0.5387	3.874	0.08556	190	0.92594	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1466.43	37	chr11	56232152	.	C	T	1466.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.09;DP=428;ExcessHet=0;FS=4.105;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-0.403;SOR=1.17	GT:AD:DP:GQ:PL	0/1:55,53:108:99:1478,0,1504	9	0	1	0
chr11	56413489	56413489	A	G	exonic	OR5AL1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs751321890	0.0003	0.0001	0.0003	0.0004	0.0002	0.0003	0.0003	0.0001	0.0001	0	0	0.0050	0	0	0	0.0002	0.0006	0	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0001	8.879e-05	2.413e-05	0	0	0.0066	0	0	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1954.43	38	chr11	56413489	.	A	G	1954.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.2;DP=655;ExcessHet=0;FS=2.584;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=0.636;SOR=0.775	GT:AD:DP:GQ:PL	0/1:101,79:180:99:1966,0,2459	9	0	1	0
chr11	59806355	59806355	G	A	exonic	MRPL16	.	nonsynonymous SNV	MRPL16:NM_017840:exon4:c.C748T:p.R250C	.	427	1087	8	0	0	8	0.00366636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.098361728498	0.0015	0.000199681	0.0014	0.0005	8.639e-05	0	0.0006	0.0021	0.0033	0.0012	0.0012613	195	154602	rs144762155	0.0011	0.0011	0.0011	0.0011	0.0013	0.0011	0.0011	0.0012	0.0012	0.0001	0.0002	0	0	0.0008	0.0002	0.0013	0.0008	0.0012	0.0007	0.0007	0.0008	0.0006	0.0012	0.0006	0.0006	0.0010	0.0009	0.0002	0	0.0004	0	0	0.0006	0	0.0012	0.0005	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.922	0.65739	D	0.000000	0.84330	D	0.050707	1	0.81001	D	2.95	0.84923	M	1.6	0.28604	T	-2.45	0.53577	N	0.857	0.85343	-0.7517	0.57846	T	0.179	0.52489	T	10	0.2001785	0.36055	T	0.098362	0.76928	D	0.297	0.61730	.	.	0.585564602418	0.58230	0.8236989340090101	0.82326	0.634110956647	0.57278	0.606295228004	0.53793	T	0.127587	0.45471	T	-0.138637	0.30107	T	0.00906656	0.70922	D	0.0721522569277987	0.08950	T	0.645335	0.25688	T	0.7853894	0.82987	0.30880463	0.56897	0.7853894	0.82988	0.30880463	0.56896	-6.351	0.49125	T	.	.	0.475	0.63419	A	.	.	4.790765	0.77749	26.8	0.99899529971495427	0.97199	0.95610	0.65411	D	AEFDBCI	0.480885	0.52241	N	0.459072963831854	0.64719	4.732942	0.374184910679275	0.59978	4.180508	0.999677849706317	0.41644	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.07	5.15	0.70287	3.508000	0.53135	6.708000	0.56392	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.541000	0.29961	0.0:0.0:0.7256:0.2744	14.008	0.63994	799	0.44747	.	.	.	.	.	.	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	0.05	1571.43	33	chr11	59806355	.	G	A	1571.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.68;DP=479;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=-0.886;SOR=0.714	GT:AD:DP:GQ:PL	0/1:100,66:166:99:1583,0,2266	9	0	1	0
chr11	61119455	61119455	G	A	exonic	CD5	.	nonsynonymous SNV	CD5:NM_001346456:exon5:c.G514A:p.E172K,CD5:NM_014207:exon5:c.G685A:p.E229K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00208720662326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.357	0.12032	T	0.906	0.02996	T	0.001	0.07471	B	0.001	0.04355	B	0.692391	0.10164	N	0.813776	1	0.08975	N	0	0.06538	N	4.77	0.01563	T	-0.09	0.08340	N	0.052	0.02366	-0.9366	0.43149	T	0.003	0.00864	T	10	0.080026805	0.12942	T	0.002087	0.03855	T	0.054	0.15330	0.449	0.50957	0.396494342077	0.39262	0.3447648434744287	0.34389	0.324318538032	0.34596	0.298914134502	0.10239	T	0.061545	0.31683	T	-0.372619	0.03463	T	-0.773018	0.02670	T	0.0428183637559414	0.04205	T	0.487551	0.14930	T	0.044888426	0.07252	0.0526178	0.08704	0.044888426	0.07252	0.0526178	0.08703	-4.088	0.25113	T	.	.	0.074	0.05274	B	.	.	0.209212	0.05930	2.370	0.14742925831892073	0.00336	0.02760	0.07451	N	AEFDBI	.	.	.	-1.0620198165826	0.07353	0.3413227	-0.984900777192506	0.10124	0.5079197	0.888662678100064	0.25794	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.28	3.35	0.37468	0.170000	0.16476	0.170000	0.15507	-0.127000	0.13314	0.004000	0.16614	0.000000	0.08366	0.005000	0.06747	0.1239:0.0:0.8761:0.0	7.095	0.24483	302	0.87871	SRCR 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	.	.	.	.	.	.	.	.	0.05	2014.43	35	chr11	61119455	.	G	A	2014.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.052;DP=473;ExcessHet=0;FS=0.591;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=1.17;SOR=0.626	GT:AD:DP:GQ:PL	0/1:73,83:156:99:2026,0,1854	9	0	1	0
chr11	61481918	61481918	G	A	exonic	PPP1R32	.	nonsynonymous SNV	PPP1R32:NM_001170753:exon2:c.G109A:p.G37S,PPP1R32:NM_145017:exon2:c.G109A:p.G37S	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	.	7.7e-05	.	6.934e-05	0.0001	9.161e-05	0	0	3.135e-05	0.0012	0.0002	5.82e-05	9	154602	rs137981780	3.438e-05	3.968e-05	3.213e-05	3.664e-05	0.0004	2.632e-05	2.371e-05	6.21e-05	3.556e-05	6.357e-05	2.86e-05	0	0	0	0.0004	3.192e-05	1.697e-05	9.871e-05	3.285e-05	3.283e-05	3.853e-05	2.69e-05	7.349e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.079	0.33923	T	0.237	0.24621	T	0.99	0.73220	D	0.484	0.54900	P	0.000732	0.42129	D	0.103999	1	0.81001	D	1.445	0.36358	L	0.58	0.54149	T	-4.09	0.74821	D	0.483	0.51761	-0.9598	0.39218	T	0.152	0.48135	T	9	0.30479673	0.48002	T	0.014986	0.35458	T	0.212	0.50341	.	.	0.714579403	0.71207	0.4076322873801166	0.40679	0.485752848142	0.47451	0.436284214258	0.30069	T	0.031295	0.21975	T	-0.253082	0.13724	T	-0.385976	0.35022	T	0.83999091386795	0.49326	D	0.768523	0.39806	T	0.18369374	0.39649	0.25850424	0.51584	0.18369374	0.39649	0.25850424	0.51583	-5.07	0.40630	T	.	.	0.210	0.43775	B	.;.	.;.	5.501360	0.91587	32	0.99785354493867184	0.87131	0.81215	0.40666	D	AEFDBI	0.358678	0.44927	N	0.355664694352723	0.59040	4.080216	0.360894724504483	0.59165	4.092295	0.999837742457985	0.43792	0.549168	0.22868	0	0.588066	0.40923	0	0.467745	0.07146	0	0.616125	0.45549	0	.	.	4.89	3.85	0.43556	2.765000	0.47304	6.535000	0.55868	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.674000	0.33367	0.1585:0.0:0.8415:0.0	7.874	0.28747	722	0.55239	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1554.43	36	chr11	61481918	.	G	A	1554.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.021;DP=503;ExcessHet=0;FS=3.059;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-1.346;SOR=0.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,68:137:99:0|1:61481911_C_A:1566,0,1571:61481911	9	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	.	.	.	.	.	.	.	.	0.375	1996.68	82	chr11	61740527	.	G	C	1996.68	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-2.572;DP=871;ExcessHet=4.5998;FS=250.847;InbreedingCoeff=-0.5345;MLEAC=7;MLEAF=0.438;MQ=59.99;MQRankSum=0;QD=3.38;ReadPosRankSum=2.09;SOR=10.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,41:116:99:0|1:61740527_G_C:670,0,1982:61740527	2	0	6	2
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	.	.	.	.	.	.	.	.	0.5	4287.03	85	chr11	61740531	.	T	C	4287.03	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.113;DP=1125;ExcessHet=22.563;FS=268.204;InbreedingCoeff=-0.9992;MLEAC=10;MLEAF=0.5;MQ=59.99;MQRankSum=0;QD=3.99;ReadPosRankSum=1.35;SOR=10.248	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,41:113:99:0|1:61740527_G_C:678,0,1932:61740527	0	0	10	0
chr11	62649164	62649164	C	T	exonic	INTS5	.	nonsynonymous SNV	INTS5:NM_030628:exon2:c.G916A:p.G306R	.	.	.	.	.	.	.	.	.	.	.	3968871	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.0102790380542	.	.	6.651e-05	0	0	0.0001	0	4.549e-05	0	0.0002	5.17e-05	8	154602	rs781520641	4.037e-05	4.036e-05	3.268e-05	4.815e-05	0.0002	3.18e-05	2.911e-05	0.0001	0.0001	0	6.709e-05	0	0	0	0.0002	3.059e-05	3.313e-05	0.0002	7.885e-05	7.879e-05	6.423e-05	9.415e-05	0.0004	4.496e-05	3.512e-05	7.285e-05	3.053e-05	0.0001	0	0.0001	0	0	0	0	4.41e-05	0	0.0004	0.064	0.36509	T	0.095	0.39492	T	0.99	0.63424	D	0.492	0.47401	P	0.000278	0.46590	D	0.147744	0.95048	0.37697	D	0.55	0.14455	N	.	.	.	-0.71	0.20145	N	0.475	0.51048	-0.8036	0.54932	T	0.145	0.46859	T	9	0.19570446	0.35433	T	0.010279	0.26632	T	0.067	0.19503	0.223	0.14665	0.143184338766	0.13958	0.6849780846380448	0.68436	1.12451302267	0.78409	0.704368829727	0.67776	T	0.036464	0.24114	T	-0.202711	0.20413	T	-0.292288	0.45535	T	0.0509734377264977	0.05670	T	0.922308	0.71764	D	0.16921665	0.37425	0.09936293	0.23722	0.16921665	0.37425	0.09936293	0.23722	-9.798	0.72693	D	.	.	0.548	0.66717	A	.	.	4.490815	0.70148	25.5	0.99791379226756149	0.87750	0.89641	0.50236	D	AEFBI	0.350496	0.44392	N	0.197923587199538	0.51100	3.293924	0.181379648045835	0.48828	3.093524	0.999989089602491	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.45	4.45	0.53365	2.194000	0.42301	.	.	0.599000	0.40250	0.953000	0.33222	1.000000	0.68203	0.821000	0.38685	0.0:1.0:0.0:0.0	14.656	0.68436	298	0.88068	Integrator complex subunit 5, 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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1410.43	34	chr11	62649164	.	C	T	1410.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=432;ExcessHet=0;FS=2.591;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.265;SOR=1.009	GT:AD:DP:GQ:PL	0/1:47,55:102:99:1422,0,1067	9	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	149.46	84	chr11	63290238	.	C	T	149.46	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.009;DP=904;ExcessHet=0.2348;FS=124.706;InbreedingCoeff=-0.1252;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-0.134;SOR=9.877	GT:AD:DP:GQ:PL	0/1:66,33:106:99:118,0,1305	8	0	2	0
chr11	65172786	65172786	C	T	exonic	SPDYC	.	nonsynonymous SNV	SPDYC:NM_001008778:exon6:c.C619T:p.R207W	.	412	1086	23	1	0	25	0.0113792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	0.0007	0.00459265	0.0044	0.0002	0.0002	0	0	0.0009	0.0066	0.0279	0.0037968	587	154602	rs149911369	0.0022	0.0022	0.0014	0.0030	0.0267	0.0021	0.0021	0.0258	0.0255	8.961e-05	0.0002	0.0006	2.519e-05	0.0001	0.0111	0.0006	0.0021	0.0267	0.0015	0.0015	0.0012	0.0019	0.0262	0.0014	0.0013	0.0224	0.0210	0.0001	0.0253	0.0009	0.0003	0	9.409e-05	0.0034	0.0009	0.0014	0.0262	0.007	0.59928	D	0.099	0.38891	T	0.428	0.35540	B	0.054	0.25828	B	0.151483	0.17953	N	0.426269	1	0.08975	N	2.14	0.59869	M	.	.	.	-5.78	0.87988	D	0.425	0.46462	-1.0856	0.06298	T	0.048	0.20315	T	9	0.0054340363	0.00120	T	.	.	.	0.115	0.32236	.	.	0.0138822411134	0.00435	0.5131026573056315	0.51232	0.605002519522	0.55411	0.463276922703	0.33760	T	0.29755	0.67014	T	-0.391484	0.02631	T	-0.314167	0.43211	T	0.133441322623025	0.15696	T	0.842916	0.51943	T	0.11537144	0.27226	0.13916165	0.33212	0.11537144	0.27225	0.13916165	0.33211	-3.978	0.23473	T	.	.	0.159	0.35140	B	.	.	2.075615	0.26395	17.10	0.99795229772460403	0.88017	0.15507	0.18946	N	AEFDBHCI	0.133055	0.25258	N	-0.794925115796787	0.13441	0.6621973	-0.86613044335967	0.12900	0.6662648	0.529622566827932	0.21165	0.65861	0.49226	0	0.547309	0.14657	0	0.725225	0.93170	0	0.613276	0.41899	0	.	.	5.5	-1.57	0.08055	0.060000	0.14220	-1.064000	0.06442	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.374000	0.26200	0.4467:0.3164:0.2369:0.0	9.662	0.39125	411	0.82069	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1788.43	34	chr11	65172786	.	C	T	1788.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.92;DP=439;ExcessHet=0;FS=1.475;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=0.391;SOR=0.849	GT:AD:DP:GQ:PL	0/1:50,67:117:99:1800,0,1102	9	0	1	0
chr11	65581613	65581613	G	A	exonic	EHBP1L1	.	nonsynonymous SNV	EHBP1L1:NM_001099409:exon9:c.G941A:p.R314Q	.	412	1108	2	0	0	2	0.000901713	.	.	.	2456328	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.0543514010661	.	0.000199681	5.887e-05	0.0005	0	0	0	0	0	0	1.29e-05	2	154602	rs558905922	4.338e-06	1.094e-05	2.85e-06	5.871e-06	0.0002	1.56e-06	1.03e-06	7.5e-07	2.1e-07	0	0	0	0	2.1e-05	0.0002	2.798e-06	0	1.301e-05	1.972e-05	1.969e-05	1.286e-05	2.688e-05	2.41e-05	5.24e-06	2.45e-06	.	.	2.41e-05	0	0	0	0	0.0002	0	0	0	0	0.393	0.10730	T	0.486	0.11691	T	0.029	0.19866	B	0.004	0.10090	B	0.280192	0.03828	N	1.571070	1	0.08975	N	-0.805	0.01590	N	-0.08	0.80899	T	-0.06	0.11913	N	0.046	0.01825	-0.9396	0.42679	T	0.244	0.61260	T	10	0.019987911	0.00453	T	0.054351	0.65824	D	0.055	0.15663	0.228	0.15406	0.629465430942	0.62643	0.20891649418216485	0.20807	0.0394025722871	0.04204	0.250023066998	0.03770	T	1.4E-4	0.03748	T	-0.201399	0.20602	T	-0.527072	0.19580	T	0.0200177097397474	0.00702	T	0.720728	0.33361	T	0.025077661	0.01405	0.02777728	0.00957	0.025077661	0.01404	0.02777728	0.00957	-3.448	0.15711	T	.	.	0.071	0.06159	B	.;.	.;.	1.396249	0.18099	13.55	0.97723921832346428	0.35573	0.01910	0.05847	N	AEFBI	0.063476	0.12268	N	-0.969110810937911	0.09268	0.4379587	-0.982936965964584	0.10168	0.5104321	0.99250150003097	0.32863	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	4.13	-1.77	0.07551	-0.022000	0.12424	0.369000	0.17657	0.676000	0.76740	0.000000	0.06391	0.005000	0.19230	0.697000	0.34049	0.2239:0.3214:0.2912:0.1634	1.075	0.01527	280	0.88949	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	973.43	42	chr11	65581613	.	G	A	973.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.48;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-0.107;SOR=0.784	GT:AD:DP:GQ:PL	0/1:34,33:67:99:985,0,801	9	0	1	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N,PC:NM_000920:exon11:c.G1331A:p.S444N,PC:NM_001040716:exon12:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, 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	.	.	.	.	.	.	.	.	0.3	928.21	47	chr11	66863811	.	C	T	928.21	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-4.219;DP=1024;ExcessHet=4.5998;FS=159.643;InbreedingCoeff=-0.4326;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=1.45;SOR=11.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:90,43:133:99:.:.:110,0,1443:.	4	0	6	0
chr11	67409486	67409486	C	T	exonic	TBC1D10C	.	nonsynonymous SNV	TBC1D10C:NM_001369495:exon9:c.C770T:p.P257L,TBC1D10C:NM_001369496:exon9:c.C1073T:p.P358L,TBC1D10C:NM_001369498:exon9:c.C1097T:p.P366L,TBC1D10C:NM_001369494:exon10:c.C770T:p.P257L,TBC1D10C:NM_001369497:exon10:c.C1073T:p.P358L,TBC1D10C:NM_198517:exon10:c.C1073T:p.P358L	.	418	1095	9	0	0	9	0.00409277	.	.	.	3324638	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.00811284154241	.	0.000199681	0.0005	0	0	0	.	0	0	0.0008	8.41e-05	13	154602	rs531173208	0.0002	0.0002	0.0002	0.0003	0.0024	0.0002	0.0002	0.0014	0.0011	0	0.0003	3.979e-05	0	2.115e-05	0.0024	0.0002	0.0003	0.0007	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	2.405e-05	0	0.0007	0	0	0	0	0.0002	0.0005	0.0004	0.049	0.39820	D	0.115	0.36630	T	0.197	0.29559	B	0.087	0.29615	B	0.027502	0.25745	N	0.277119	1	0.81001	D	.	.	.	3.3	0.06368	T	-2.45	0.53577	N	0.148	0.15046	-1.0731	0.08745	T	0.018	0.07706	T	10	0.029675066	0.01094	T	0.008113	0.21495	T	0.074	0.21613	0.187	0.09646	0.47282010386	0.46910	0.4962139570370716	0.49542	.	.	0.399671107531	0.25023	T	0.075709	0.35243	T	-0.540267	0.00334	T	-0.677574	0.07132	T	0.0515075278836964	0.05762	T	0.810819	0.46223	T	0.07095753	0.15671	0.085965656	0.19886	0.07095753	0.15670	0.085965656	0.19885	-3.298	0.13712	T	.	.	0.080	0.07985	B	.	.	2.446813	0.31499	18.76	0.98084977694628972	0.38141	0.16784	0.19547	N	ALL	0.061850	0.11852	N	-0.555191265839513	0.20321	1.070385	-0.552803662091927	0.20732	1.118291	0.999999999999998	0.74766	0.580535	0.33130	0	0.52208	0.09955	0	0.603688	0.36954	0	0.604944	0.38103	0	.	.	4.92	4.92	0.64147	2.148000	0.41859	7.262000	0.57963	0.599000	0.40250	0.019000	0.19563	0.939000	0.28734	0.001000	0.02609	0.0:1.0:0.0:0.0	15.143	0.72299	580	0.69689	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	511.43	37	chr11	67409486	.	C	T	511.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.415;DP=365;ExcessHet=0;FS=1.145;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.216;SOR=0.789	GT:AD:DP:GQ:PL	0/1:21,24:45:99:523,0,416	9	0	1	0
chr11	67664499	67664499	G	A	exonic	ALDH3B2	.	nonsynonymous SNV	ALDH3B2:NM_001031615:exon8:c.C770T:p.P257L,ALDH3B2:NM_001354345:exon9:c.C770T:p.P257L	.	419	1087	14	2	0	18	0.00821168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.928	.	0.0018	0.00279553	0.0026	0.0004	0.0010	0	0	0.0026	0.0022	0.0076	0.0023738	367	154602	rs150084712	0.0025	0.0025	0.0023	0.0027	0.0072	0.0024	0.0024	0.0068	0.0066	0.0004	0.0007	0.0085	2.519e-05	1.872e-05	0.0063	0.0023	0.0026	0.0072	0.0019	0.0019	0.0017	0.0021	0.0104	0.0017	0.0016	0.0081	0.0073	0.0004	0	0.0012	0.0098	0	0	0	0.0023	0.0014	0.0104	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	1	0.81001	D	4.545	0.99110	H	-3.69	0.95317	D	-9.7	0.98602	D	0.989	0.99670	1.091	0.99295	D	0.957	0.98615	D	10	0.12536263	0.23821	T	.	.	.	0.928	0.98267	.	.	0.976308020779	0.97605	0.9449000254571344	0.94472	0.777711585674	0.65120	0.622250556946	0.56047	T	0.494025	0.81734	T	0.213359	0.75148	D	0.538826	0.95405	D	0.230741646468653	0.21987	T	0.992251	0.97542	D	0.9802403	0.99128	0.9513399	0.98480	0.9802403	0.99128	0.9513399	0.98480	-10.231	0.75283	D	.	.	0.466	0.62985	A	.;.	.;.	5.238448	0.87935	29.4	0.99897445217261727	0.96971	0.99222	0.93031	D	AEFDBI	0.873197	0.79542	D	0.986518143290859	0.95316	13.50433	0.839598244448149	0.92395	11.40123	0.9999999998381	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.94	3.94	0.44807	9.833000	0.98330	11.147000	0.87239	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	16.108	0.81049	774	0.48577	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase 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	0.009063	0.005051	0.004076	0.029240	0.000000	0.008621	0.012195	0.000000	0.05	2088.43	48	chr11	67664499	.	G	A	2088.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.86;DP=520;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.97;MQRankSum=0.92;QD=10.99;ReadPosRankSum=-0.692;SOR=0.656	GT:AD:DP:GQ:PL	0/1:104,86:190:99:2100,0,2611	9	0	1	0
chr11	68021629	68021629	G	A	exonic	ALDH3B1	.	nonsynonymous SNV	ALDH3B1:NM_001030010:exon6:c.G596A:p.R199H,ALDH3B1:NM_001290059:exon6:c.G119A:p.R40H,ALDH3B1:NM_000694:exon7:c.G707A:p.R236H,ALDH3B1:NM_001161473:exon7:c.G707A:p.R236H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0876827660884	7.7e-05	.	1.649e-05	9.63e-05	0	0	0	0	0	6.057e-05	1.29e-05	2	154602	rs372252810	3.42e-06	3.42e-06	5.445e-06	1.375e-06	2.987e-05	1e-06	7.3e-07	3e-07	1.1e-07	2.987e-05	0	0	2.519e-05	0	0	1.799e-06	0	1.159e-05	4.603e-05	4.597e-05	5.14e-05	4.039e-05	0.0002	2.111e-05	1.528e-05	7.897e-05	5.591e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	0.002	0.83351	D	1.0	0.90584	D	0.988	0.77976	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.58117	.	.	.	.	.	.	.	0.5116157	0.62130	D	0.087683	0.74984	D	.	.	.	.	0.722757827694	0.72031	0.653885058077823	0.65324	.	.	0.481784522533	0.36303	T	0.519	0.83165	D	0.031912	0.55977	T	-0.0104091	0.69657	D	.	.	.	0.836416	0.68393	T	0.7883416	0.83169	0.82510066	0.89867	0.7883416	0.83171	0.82510066	0.89867	-12.719	0.88172	D	.	.	0.370	0.64920	A	.;.;.	.;.;.	5.313158	0.89189	29.9	0.95303465454171232	0.26627	0.79664	0.39520	D	AEFGBHCI	0.601857	0.59394	D	.	.	.	.	.	.	0.999999999998777	0.74766	0.035006	0.00240	2	0.090787	0.02525	0	0.096126	0.03002	1	0.109439	0.03173	0	.	.	3.89	3.89	0.44098	3.423000	0.52517	8.058000	0.76386	0.567000	0.28720	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	14.694	0.68715	783	0.47268	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase 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	.	.	.	.	.	.	.	.	0.05	4686.43	33	chr11	68021629	.	G	A	4686.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.662;DP=665;ExcessHet=0;FS=5.54;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.97;MQRankSum=0;QD=13.7;ReadPosRankSum=1.24;SOR=0.567	GT:AD:DP:GQ:PL	0/1:160,182:342:99:4698,0,3983	9	0	1	0
chr11	71549001	71549001	G	T	exonic	KRTAP5-9	.	nonsynonymous SNV	KRTAP5-9:NM_005553:exon1:c.G344T:p.C115F	.	407	1101	12	0	2	14	0.00542005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0038	0.000399361	0.0035	0.0006	0.0016	0	0.0005	0.0055	0.0110	0.0013	0.0033893	524	154602	rs117137984	0.0039	0.0039	0.0038	0.0039	0.0150	0.0038	0.0038	0.0124	0.0115	0.0005	0.0022	0.0300	2.519e-05	0.0003	0.0150	0.0038	0.0055	0.0016	0.0029	0.0028	0.0030	0.0027	0.0037	0.0026	0.0025	0.0033	0.0032	0.0007	0	0.0022	0.0269	0	0.0002	0.0139	0.0037	0.0053	0.0008	0.0	0.91255	D	0.003	0.76473	D	0.523	0.37559	P	0.299	0.41006	B	.	.	.	.	0.999813	0.20249	N	3.77	0.95173	H	3.82	0.03728	T	-6.3	0.90771	D	0.204	0.22614	-1.0319	0.19841	T	0.015	0.06282	T	9	0.005451739	0.00120	T	.	.	.	0.052	0.14661	.	.	0.306695030598	0.30287	.	.	0.147936380739	0.16687	.	.	.	0.100477	0.40632	T	-0.472536	0.00820	T	-0.449208	0.27785	T	0.128075466859228	0.15202	T	0.308669	0.05963	T	0.41504446	0.61760	0.40688035	0.65049	0.41504446	0.61760	0.40688035	0.65049	-8.074	0.61574	D	.	.	0.107	0.20038	B	.	.	1.659236	0.21164	15.08	0.82675549680281257	0.14316	0.09305	0.15088	N	AEFDBCI	0.082756	0.16760	N	-0.302047688813159	0.29071	1.608899	-0.499828655849234	0.22159	1.202206	0.999798386518099	0.43153	0.559995	0.30671	0	0.624146	0.53433	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.21	1.21	0.20240	4.878000	0.62786	.	.	0.575000	0.29119	0.357000	0.25817	0.034000	0.21380	0.002000	0.04165	0.2633:0.0:0.7366:0.0	3.524	0.07311	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	0.013742	0.005051	0.013587	0.008197	0.050000	0.017241	0.030488	0.007576	0.05	3896.43	34	chr11	71549001	.	G	T	3896.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.31;DP=752;ExcessHet=0;FS=0.879;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.395;SOR=0.658	GT:AD:DP:GQ:PL	0/1:154,143:297:99:3908,0,4203	9	0	1	0
chr11	73311051	73311051	C	G	exonic	ARHGEF17	.	nonsynonymous SNV	ARHGEF17:NM_014786:exon1:c.C2413G:p.Q805E	.	417	1084	20	1	0	22	0.0100457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0002	0.00319489	0.0019	0	0.0002	0	0	0.0001	0.0022	0.0133	0.0016753	259	154602	rs146497753	0.0009	0.0009	0.0005	0.0013	0.0137	0.0009	0.0008	0.0131	0.0128	2.987e-05	0.0001	0	0	0	0.0031	5.576e-05	0.0008	0.0137	0.0004	0.0004	0.0002	0.0006	0.0106	0.0003	0.0003	0.0083	0.0074	2.406e-05	0	0	0	0	0	0	2.941e-05	0.0005	0.0106	0.007	0.59928	D	0.036	0.52060	D	0.081	0.24602	B	0.007	0.12992	B	0.053518	0.22802	N	0.370462	0.998278	0.22253	N	1.61	0.41143	L	0.49	0.55775	T	-0.38	0.13418	N	0.274	0.31027	-0.9934	0.31722	T	0.098	0.36600	T	10	0.0047130883	0.00099	T	.	.	.	0.060	0.17295	.	.	0.450326921165	0.44653	0.180490145819556	0.17968	0.448488106829	0.44675	0.330097079277	0.14949	T	0.010495	0.09475	T	-0.458662	0.01002	T	-0.419288	0.31157	T	0.0291780304111627	0.01865	T	0.772323	0.40326	T	0.18583928	0.39965	0.15137646	0.35662	0.18583928	0.39965	0.15137646	0.35661	-3.249	0.13088	T	.	.	0.070	0.03407	B	.	.	3.313446	0.45536	22.1	0.97018756912290371	0.32018	0.79887	0.39677	D	AEFDGBI	.	.	.	-0.192599689152137	0.33441	1.897307	-0.047469029488281	0.37599	2.203716	0.999998881283067	0.74766	0.722319	0.85440	0	0.586065	0.33999	0	0.673471	0.61138	0	0.735409	0.98432	0	.	.	4.41	4.41	0.52588	2.804000	0.47628	5.983000	0.52202	0.597000	0.34315	0.997000	0.40164	1.000000	0.68203	0.984000	0.60418	0.3162:0.6838:0.0:0.0	9.807	0.39967	631	0.64944	.	.	.	.	.	.	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	0.000000	0.005848	0.000000	0.000000	0.003049	0.011364	0.05	1428.43	39	chr11	73311051	.	C	G	1428.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=426;ExcessHet=0;FS=1.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=-0.402;SOR=0.52	GT:AD:DP:GQ:PL	0/1:40,50:90:99:1440,0,976	9	0	1	0
chr11	77039901	77039901	T	C	exonic	B3GNT6	.	nonsynonymous SNV	B3GNT6:NM_138706:exon2:c.T350C:p.V117A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00250823260792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.17183	T	0.66	0.32783	T	0.018	0.17786	B	0.025	0.20508	B	0.001881	0.37740	N	0.217695	1	0.23414	N	1.5	0.37844	L	.	.	.	-2.8	0.59226	D	0.122	0.11340	-1.0266	0.21560	T	0.053	0.22539	T	10	0.14013514	0.26640	T	0.002508	0.05009	T	0.087	0.25287	0.546	0.66015	0.119812018005	0.11559	0.6974399206259607	0.69684	.	.	0.838371694088	0.87847	D	0.020232	0.15966	T	-0.110054	0.34758	T	-0.395862	0.33865	T	0.0947027206420898	0.11764	T	0.439856	0.13375	T	0.030608065	0.02753	0.055353947	0.09694	0.030608065	0.02752	0.055353947	0.09693	-5.988	0.46179	T	0.357746286592246	0.45446	0.102	0.23535	B	.;.	.;.	1.353785	0.17619	13.27	0.43103275175697275	0.03222	0.34061	0.24978	N	ALL	.	.	.	-0.987972636753363	0.08860	0.4170544	-1.0802269551822	0.08090	0.3962696	0.99999847562509	0.74766	0.623204	0.39778	0	0.606814	0.50340	0	0.378051	0.06126	2	0.603991	0.37454	0	.	.	3.28	-0.526	0.11318	2.311000	0.43377	0.543000	0.19351	0.559000	0.28343	0.268000	0.25027	0.996000	0.32793	0.027000	0.12703	0.0:0.3226:0.0:0.6774	7.096	0.24490	502	0.75873	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	737.43	43	chr11	77039901	.	T	C	737.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.22;DP=407;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.48;ReadPosRankSum=0.398;SOR=0.673	GT:AD:DP:GQ:PL	0/1:52,35:87:99:749,0,1401	9	0	1	0
chr11	77217316	77217316	T	G	splicing	GDPD4	NM_182833:exon17:c.1526-2A>C	.	.	.	435	1083	4	0	0	4	0.00184332	1.0000	0.894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	3.295e-05	9.615e-05	0	0	0	1.499e-05	0.0011	6.06e-05	2.59e-05	4	154602	rs373234595	3.379e-05	3.421e-05	2.061e-05	4.707e-05	0.0010	2.586e-05	2.33e-05	0.0005	0.0003	6.017e-05	0	0	0	0	0.0010	3.087e-05	4.999e-05	4.651e-05	3.942e-05	3.94e-05	3.853e-05	4.035e-05	0.0002	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0632271	0.42401	T	-0.124998	0.61389	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.002742	0.58988	24.0	0.96219784557827459	0.29082	0.90110	0.51034	D	AEFBI	.	.	.	0.789595872003928	0.85449	8.579724	0.55173682820494	0.71516	5.667069	0.317898422545907	0.19354	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.938516	0.59947	4.22	4.22	0.49153	2.794000	0.47545	4.040000	0.41416	0.665000	0.62972	0.997000	0.40164	0.996000	0.32793	0.263000	0.23594	0.0:0.0:0.0:1.0	9.996	0.41072	689	0.59000	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	995.43	34	chr11	77217316	.	T	G	995.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.188;DP=423;ExcessHet=0;FS=0.997;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-1.472;SOR=0.955	GT:AD:DP:GQ:PL	0/1:43,35:78:99:1007,0,1246	9	0	1	0
chr11	77590426	77590426	A	C	exonic	AQP11	.	nonsynonymous SNV	AQP11:NM_001363477:exon1:c.A434C:p.Q145P,AQP11:NM_173039:exon1:c.A434C:p.Q145P	.	430	1070	22	0	0	22	0.0101758	.	.	.	2813577	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.261	0.083264955827	0.0042	0.00239617	0.0037	0.0012	0.0048	0	0.0003	0.0053	0.0044	0.0012	0.0036545	565	154602	rs145893530	0.0059	0.0059	0.0060	0.0058	0.0078	0.0058	0.0058	0.0068	0.0068	0.0012	0.0053	0.0025	5.038e-05	0.0003	0.0078	0.0070	0.0062	0.0014	0.0043	0.0043	0.0045	0.0041	0.0089	0.0040	0.0039	0.0077	0.0072	0.0017	0	0.0089	0.0012	0	9.427e-05	0.0170	0.0062	0.0066	0.0006	0.202	0.20230	T	0.152	0.32249	T	0.11	0.26188	B	0.072	0.28043	B	0.122917	0.18937	N	0.580480	1	0.08975	N	1.245	0.31408	L	-1.95	0.85003	D	-1.12	0.28906	N	0.214	0.23884	-0.8907	0.48873	T	0.133	0.44642	T	10	0.006157875	0.00139	T	0.083265	0.74077	D	0.261	0.57352	.	.	0.77023634194	0.76813	0.6218066726886482	0.62113	0.724929908737	0.62421	0.25926721096	0.04804	T	0.290695	0.66346	T	-0.30452	0.08240	T	-0.200804	0.54570	T	0.00296987028726989	0.00031	T	0.60234	0.22547	T	0.27303013	0.50372	0.26322335	0.52126	0.27303013	0.50371	0.26322335	0.52125	-4.334	0.28651	T	.	.	0.063	0.01534	B	.	.	1.644318	0.20984	15.00	0.86587087383490335	0.16636	0.43664	0.27148	N	ALL	0.468235	0.51512	N	-0.944095465145088	0.09826	0.4667635	-0.818460089257118	0.14048	0.7320476	0.999999073711257	0.74766	0.685219	0.55550	0	0.516746	0.08562	0	0.674405	0.61402	0	0.618803	0.45993	0	.	.	5.54	1.79	0.23992	1.704000	0.37476	2.655000	0.33841	0.691000	0.84096	0.021000	0.19753	0.999000	0.35428	0.191000	0.21631	0.7482:0.0:0.2518:0.0	8.037	0.29657	371	0.84287	.	.	.	.	.	.	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	0.009567	0.020202	0.012228	0.000000	0.000000	0.008621	0.012195	0.003788	0.1	8088.14	42	chr11	77590426	.	A	C	8088.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.539;DP=765;ExcessHet=0.2348;FS=10.49;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=0.03;SOR=0.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,94:207:99:0|1:77590426_A_C:3575,0,4411:77590426	8	0	2	0
chr11	77590427	77590427	G	T	exonic	AQP11	.	nonsynonymous SNV	AQP11:NM_001363477:exon1:c.G435T:p.Q145H,AQP11:NM_173039:exon1:c.G435T:p.Q145H	.	432	1068	22	0	0	22	0.0101946	.	.	.	2813578	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.093	0.0857217094285	0.0042	0.00239617	0.0037	0.0012	0.0048	0	0.0003	0.0053	0.0044	0.0011	0.0036481	564	154602	rs117458417	0.0059	0.0059	0.0060	0.0058	0.0078	0.0058	0.0058	0.0068	0.0068	0.0012	0.0053	0.0025	5.038e-05	0.0003	0.0078	0.0070	0.0062	0.0013	0.0043	0.0043	0.0045	0.0041	0.0089	0.0040	0.0039	0.0077	0.0072	0.0017	0	0.0089	0.0012	0	9.427e-05	0.0170	0.0062	0.0066	0.0006	0.067	0.35918	T	0.042	0.50226	D	0.0	0.02946	B	0.002	0.06944	B	0.122917	0.18937	N	0.580480	1	0.08975	N	1.245	0.31408	L	-1.98	0.85247	D	-1.42	0.34992	N	0.021	0.00339	-0.8529	0.51767	T	0.185	0.53361	T	10	0.0056094825	0.00124	T	0.085722	0.74590	D	0.093	0.26882	0.379	0.39482	0.786729234469	0.78475	0.23597778875359826	0.23512	0.82945304597	0.67562	0.260296195745	0.04926	T	0.375488	0.73908	T	-0.479925	0.00740	T	-0.45276	0.27391	T	0.00589196671451376	0.00065	T	0.448855	0.12628	T	0.06446556	0.13681	0.06976676	0.14741	0.06446556	0.13680	0.06976676	0.14740	-3.127	0.11609	T	.	.	0.102	0.18037	B	.	.	2.034810	0.25866	16.91	0.94974682886674278	0.25906	0.30284	0.24043	N	ALL	0.199495	0.32629	N	-0.915129244643713	0.10488	0.5014076	-0.811395508365201	0.14219	0.7418653	0.999999237364034	0.74766	0.685219	0.55550	0	0.516746	0.08562	0	0.674405	0.61402	0	0.618803	0.45993	0	.	.	5.54	2.52	0.29514	0.305000	0.19006	0.775000	0.21430	-0.182000	0.10109	0.002000	0.15269	0.998000	0.33993	0.204000	0.22012	0.0698:0.1263:0.5426:0.2612	5.224	0.14706	371	0.84287	.	.	.	.	.	.	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	0.020202	0.012228	0.000000	0.000000	0.008621	0.012195	0.003788	0.1	8088.14	42	chr11	77590427	.	G	T	8088.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.78;DP=766;ExcessHet=0.2348;FS=10.49;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=0.152;SOR=0.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,94:207:99:0|1:77590426_A_C:3575,0,4411:77590426	8	0	2	0
chr11	78669655	78669655	G	C	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon32:c.C6690G:p.N2230K	Tremor, hereditary essential, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.201149143985	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1242527390	3.421e-06	3.42e-06	2.723e-06	4.126e-06	3.598e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.023	0.58089	D	0.997	0.70673	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.999762	0.48888	D	2.595	0.75868	M	-2.66	0.90272	D	-5.03	0.85397	D	0.801	0.79696	0.523	0.90870	D	0.798	0.93153	D	9	0.5495869	0.64179	D	0.201149	0.86749	D	0.475	0.76751	0.363	0.36874	0.559495123731	0.55609	0.6291437972244921	0.62847	0.692844510377	0.60684	0.831832945347	0.86843	D	0.644697	0.89145	D	0.0832233	0.62416	D	-0.118232	0.61948	T	0.971876263618469	0.69482	D	0.748825	0.36981	T	0.53796893	0.69282	0.45124692	0.68071	0.53796893	0.69283	0.45124692	0.68071	-12.332	0.86430	D	0.5357378148109877	0.60603	0.681	0.72165	P	.;.	.;.	3.944600	0.57739	23.9	0.99654214863699053	0.77505	0.93114	0.57363	D	AEFGBI	0.621402	0.60611	D	0.261784701508451	0.54225	3.588559	0.189846513177274	0.49288	3.133947	7.83114471591667E-4	0.07810	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.14	2.3	0.27735	2.524000	0.45250	3.554000	0.39061	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.4049:0.0:0.5951:0.0	8.178	0.30457	868	0.31772	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2909.43	34	chr11	78669655	.	G	C	2909.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.031;DP=533;ExcessHet=0;FS=3.793;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.581;SOR=0.922	GT:AD:DP:GQ:PL	0/1:103,117:220:99:2921,0,2540	9	0	1	0
chr11	90086869	90086869	G	A	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G920A:p.G307D	.	566	937	16	3	0	22	0.0116034	.	.	.	2813651	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0260	0.0208	0.25	0	.	0.0326	0	0	0.0015368	40	26028	rs199875717	0.0084	0.0083	0.0084	0.0083	0.0302	0.0082	0.0081	0.0253	0.0234	0.0013	0.0084	0.0069	0	0.0015	0.0302	0.0099	0.0076	0.0044	0.0060	0.0062	0.0067	0.0052	0.0093	0.0056	0.0055	0.0086	0.0084	0.0014	0.0423	0.0065	0.0075	0	0.0008	0.0305	0.0093	0.0059	0.0031	.	.	.	0.692	0.05882	T	0.974	0.57829	D	0.497	0.47562	P	.	.	.	.	.	.	.	1.385	0.34509	L	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.0019410849	0.00027	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	0.1124879100645688	0.11177	.	.	0.672924399376	0.63254	T	0.023023	0.17644	T	-0.438589	0.01318	T	-0.407082	0.32562	T	.	.	.	0.425557	0.11413	T	0.106925346	0.25282	0.20098138	0.44057	0.106925346	0.25282	0.20098138	0.44056	-7.118	0.54890	T	.	.	0.375	0.58108	A	.	.	2.076388	0.26409	17.11	0.79514727965751031	0.12776	0.00824	0.03324	N	AEFI	.	.	.	.	.	.	.	.	.	1.97945905968477E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0431032	0.02392	0.999	0.999	0.18981	1.269000	0.32677	-2.534000	0.03638	0.311000	0.19140	0.007000	0.17678	0.000000	0.08366	0.463000	0.28185	0.0:0.0:1.0:0.0	5.393	0.15554	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011957	0.000000	0.011696	0.000000	0.000000	0.051724	0.020548	0.009259	0.05	375.43	35	chr11	90086869	.	G	A	375.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.06;DP=265;ExcessHet=0;FS=11.146;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=28.82;MQRankSum=1.75;QD=13.41;ReadPosRankSum=0.184;SOR=3.422	GT:AD:DP:GQ:PL	0/1:14,14:28:99:387,0,281	9	0	1	0
chr11	95027059	95027059	T	A	exonic	KDM4E	.	nonsynonymous SNV	KDM4E:NM_001161630:exon1:c.T1502A:p.M501K	.	430	1053	36	3	0	42	0.0195531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	.	0.0053	0.00878594	0.0220	0.0012	0.0184	0	0	0.0142	0.0181	0.0344	0.0037322	577	154602	rs138237692	0.0069	0.0065	0.0062	0.0076	0.0326	0.0068	0.0067	0.0316	0.0312	0.0013	0.0024	0.0315	0.0001	0.0008	0.0233	0.0049	0.0093	0.0326	0.0046	0.0046	0.0043	0.0048	0.0292	0.0043	0.0042	0.0253	0.0238	0.0009	0	0.0026	0.0305	0.0002	0.0004	0.0102	0.0051	0.0061	0.0292	0.001	0.78490	D	0.002	0.79402	D	0.813	0.45457	P	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	1.66	0.27486	T	-0.76	0.21215	N	0.097	0.07811	-1.0483	0.14875	T	0.024	0.10103	T	9	0.003069669	0.00051	T	.	.	.	0.166	0.42578	.	.	.	.	0.6004198705781656	0.59972	0.56785414273	0.53028	0.431474715471	0.29409	T	0.004693	0.04103	T	-0.503249	0.00548	T	-0.470592	0.25453	T	0.0105413857863969	0.00146	T	0.271273	0.04576	T	0.4697091	0.65272	0.35971227	0.61425	0.4697091	0.65273	0.35971227	0.61425	-2.291	0.04506	T	.	.	0.087	0.10979	B	.	.	0.395647	0.07671	4.341	0.81177585983080713	0.13557	0.02618	0.07200	N	AEFGBI	0.034436	0.04266	N	-0.712274400931302	0.15677	0.7921231	-0.856568180653819	0.13130	0.6794357	0.621212821137092	0.21887	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.82	1.82	0.24209	-0.467000	0.06741	-3.521000	0.02724	-0.371000	0.05444	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.0:1.0	5.691	0.17102	944	0.12746	.	.	.	.	.	.	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	0.019360	0.017045	0.024691	0.030769	0.000000	0.017857	0.022321	0.020548	0.05	1340.43	43	chr11	95027059	.	T	A	1340.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.751;DP=438;ExcessHet=0;FS=0.902;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-0.654;SOR=0.893	GT:AD:DP:GQ:PL	0/1:34,48:82:99:1352,0,888	9	0	1	0
chr11	96383374	96383374	C	T	exonic	CCDC82	.	nonsynonymous SNV	CCDC82:NM_001318737:exon5:c.G886A:p.D296N,CCDC82:NM_024725:exon5:c.G886A:p.D296N,CCDC82:NM_001318736:exon6:c.G886A:p.D296N,CCDC82:NM_001363594:exon6:c.G817A:p.D273N	.	.	.	.	.	.	.	.	.	.	.	3644742	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.143	0.0496602170952	7.7e-05	.	5.169e-05	0	0	0	0	9.989e-05	0	0	3.23e-05	5	154602	rs146108139	4.966e-05	4.994e-05	4.117e-05	5.825e-05	0.0002	4.026e-05	3.7e-05	4.006e-05	3.6e-05	3.01e-05	2.277e-05	0	2.538e-05	0	0.0002	5.073e-05	8.358e-05	8.185e-05	4.61e-05	4.598e-05	6.437e-05	2.697e-05	8.843e-05	2.114e-05	1.53e-05	3.77e-05	2.58e-05	2.416e-05	0	0	0	0	0	0	8.843e-05	0	0	0.025	0.47320	D	0.017	0.60337	D	1.0	0.90584	D	0.996	0.84481	D	0.001154	0.40056	N	0.176139	0.603132	0.30924	N	2.045	0.56016	M	0.89	0.45636	T	-1.95	0.45222	N	0.445	0.48596	-0.6035	0.64672	T	0.212	0.57321	T	10	0.1899361	0.34615	T	0.04966	0.63910	D	0.143	0.38195	.	.	0.664167852428	0.66135	0.09939613187616325	0.09870	0.296829550699	0.32070	0.544128894806	0.45029	T	0.020996	0.16432	T	-0.307206	0.07996	T	-0.473551	0.25135	T	0.243418633937836	0.22576	T	0.859314	0.55818	D	0.08441424	0.19538	0.093031496	0.21955	0.08441424	0.19538	0.093031496	0.21954	-8.022	0.61220	D	.	.	0.186	0.51059	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.915585	0.80911	27.4	0.99920578593157916	0.98721	0.58777	0.30734	D	AEFDBI	0.137471	0.25846	N	0.65952935304868	0.76986	6.588725	0.654492049678916	0.78945	6.979649	0.999581169592789	0.40607	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.77	5.77	0.91077	3.066000	0.49695	7.629000	0.62648	0.539000	0.25131	0.998000	0.41325	1.000000	0.68203	0.986000	0.61781	0.0:0.9147:0.0:0.0853	10.947	0.46520	.	.	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2078.43	33	chr11	96383374	.	C	T	2078.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.082;DP=474;ExcessHet=0;FS=1.282;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-2.608;SOR=0.855	GT:AD:DP:GQ:PL	0/1:68,85:153:99:2090,0,1524	9	0	1	0
chr11	103211829	103211829	A	T	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001080463:exon54:c.A8580T:p.E2860D,DYNC2H1:NM_001377:exon54:c.A8580T:p.E2860D	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	61	1238	176	46	1	269	0.0976676	.	.	.	2027200	Jeune_thoracic_dystrophy	MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.224	0.0553149258153	.	0.000798722	0.0008	0	0	0	0	0	0	0.0023	0.0001617	25	154602	rs17394217	8.159e-05	0.0001	5.229e-05	0.0001	0.0013	6.858e-05	6.408e-05	0.0011	0.0010	0	0	0	0.0002	0	0.0002	1.965e-05	0.0001	0.0013	7.888e-05	7.875e-05	3.858e-05	0.0001	0.0023	4.498e-05	3.514e-05	0.0013	0.0010	0	0	0	0	0	0	0	1.472e-05	0	0.0023	0.197	0.20683	T	0.313	0.19539	T	0.157	0.32870	B	0.166	0.35067	B	0.000003	0.62929	U	0.000000	6.55333e-05	0.81001	P	1.885	0.50048	L	1.38	0.34050	T	-1.77	0.41809	N	0.196	0.21580	-0.8964	0.48351	T	0.098	0.36780	T	9	0.056473076	0.06337	T	0.055315	0.66188	D	0.224	0.52174	0.493	0.58048	0.347879110917	0.34393	0.23982227598678896	0.23896	0.0595718282096	0.06622	0.632051825523	0.57436	T	0.140866	0.47562	T	-0.436232	0.01361	T	-0.406178	0.32667	T	0.0722843784085533	0.08968	T	0.756924	0.38041	T	0.17550918	0.38413	0.20267281	0.44308	0.17550918	0.38413	0.20267281	0.44307	-4.918	0.36786	T	0.36991791551332026	0.46554	0.126	0.26607	B	.;.;.;.	.;.;.;.	0.944595	0.13202	9.705	0.92453356631501604	0.21878	0.82333	0.41576	D	AEFI	0.261244	0.37924	N	-0.518340010339209	0.21487	1.140672	-0.518418958130467	0.21654	1.17238	2.95063232548294E-5	0.03498	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.76	-3.22	0.04808	-0.242000	0.08945	.	.	-0.137000	0.12594	0.491000	0.26886	0.389000	0.24654	0.996000	0.76049	0.592:0.0:0.408:0.0	13.554	0.61213	591	0.68823	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	265.43	36	chr11	103211829	.	A	T	265.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.365;DP=306;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=2.16;SOR=0.838	GT:AD:DP:GQ:PL	0/1:16,12:28:99:277,0,365	9	0	1	0
chr11	106010659	106010659	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259C:p.A87P,MSANTD4:NM_001318748:exon2:c.G259C:p.A87P,MSANTD4:NM_001318749:exon2:c.G259C:p.A87P,MSANTD4:NM_001318750:exon2:c.G259C:p.A87P,MSANTD4:NM_032424:exon2:c.G259C:p.A87P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00459803515366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.232	0.56192	T	0.789	0.44570	P	0.266	0.39732	B	0.000011	0.62929	D	0.111292	0.997442	0.43893	D	0.895	0.22405	L	.	.	.	-1.67	0.45404	N	0.439	0.47765	-0.9091	0.46965	T	0.128	0.43524	T	9	0.3502357	0.51900	T	0.004598	0.11377	T	0.141	0.37795	0.425	0.47021	0.354822389136	0.35094	0.7275256235572604	0.72696	0.716697243913	0.62006	0.596363663673	0.52391	T	0.064719	0.32505	T	0.133721	0.67721	D	-0.0456953	0.67316	D	0.881986200809479	0.53207	D	0.772023	0.40277	T	0.39838198	0.60620	0.35209376	0.60793	0.39838198	0.60621	0.35209376	0.60792	-6.644	0.51388	T	.	.	0.505	0.65603	A	.;.;.	.;.;.	3.825878	0.55270	23.6	0.996785884463948	0.79108	0.93283	0.57804	D	AEFGBI	0.427184	0.49123	N	0.316991759729759	0.57021	3.867974	0.412391093461756	0.62335	4.447326	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	4213.63	178	chr11	106010659	.	C	G	4213.63	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-4.629;DP=1435;ExcessHet=7.0302;FS=291.532;InbreedingCoeff=-0.6439;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=3.87;ReadPosRankSum=3.04;SOR=11.234	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,57:165:99:0|1:106010659_C_G:1386,0,4276:106010659	6	0	2	2
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4930.37	202	chr11	106010660	.	C	G	4930.37	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-3.122;DP=1478;ExcessHet=7.0302;FS=301.82;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=4.41;ReadPosRankSum=3.03;SOR=11.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,57:165:99:0|1:106010659_C_G:1386,0,4276:106010659	0	0	7	3
chr11	106010663	106010663	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255C:p.M85I,MSANTD4:NM_001318748:exon2:c.G255C:p.M85I,MSANTD4:NM_001318749:exon2:c.G255C:p.M85I,MSANTD4:NM_001318750:exon2:c.G255C:p.M85I,MSANTD4:NM_032424:exon2:c.G255C:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0028274219259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.905747	0.36282	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9883	0.33027	T	0.104	0.38218	T	9	0.11421201	0.21482	T	0.002827	0.05927	T	0.043	0.11576	0.294	0.25720	0.256793551483	0.25290	0.12417172391841125	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923564	0.37687	T	-0.37044	0.36836	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.013320	0.40302	21.1	0.9790952007803857	0.36801	0.97322	0.74021	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-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	.	.	.	.	.	.	.	.	0.08333	3027.84	181	chr11	106010663	.	C	G	3027.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.348;DP=1258;ExcessHet=0.7463;FS=299.408;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.94;ReadPosRankSum=4.3;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,57:166:99:0|1:106010659_C_G:1383,0,4301:106010659	5	0	1	4
chr11	106010664	106010664	A	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.T254C:p.M85T,MSANTD4:NM_001318748:exon2:c.T254C:p.M85T,MSANTD4:NM_001318749:exon2:c.T254C:p.M85T,MSANTD4:NM_001318750:exon2:c.T254C:p.M85T,MSANTD4:NM_032424:exon2:c.T254C:p.M85T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00433488665054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.369e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.019	0.69154	D	0.007	0.14184	B	0.034	0.22546	B	0.000001	0.84330	D	0.055431	0.974346	0.39097	D	0	0.06538	N	.	.	.	-0.98	0.25986	N	0.258	0.29197	-0.9720	0.36776	T	0.117	0.41209	T	9	0.18700442	0.34192	T	0.004335	0.10529	T	0.101	0.28911	0.307	0.27806	0.379881503574	0.37595	0.25955710480305316	0.25869	0.399169766946	0.40951	0.666570842266	0.62349	T	0.035133	0.23597	T	0.00410563	0.52221	T	-0.231879	0.51589	T	0.783289670944214	0.45256	D	0.79692	0.44048	T	0.42211768	0.62233	0.30941108	0.56956	0.42211768	0.62233	0.30941108	0.56955	-1.765	0.02407	T	.	.	0.407	0.59964	A	.;.;.	.;.;.	3.510524	0.49159	22.7	0.97899140483582825	0.36731	0.98220	0.80657	D	AEFGBI	0.640959	0.61847	D	-0.0622681486623968	0.39056	2.297149	0.183205801398182	0.48926	3.102239	0.999999972724126	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	6.214000	0.72143	11.169000	0.87908	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.275	0.82465	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-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	.	.	.	.	.	.	.	.	0.25	3320.06	203	chr11	106010664	.	A	G	3320.06	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.661;DP=1255;ExcessHet=0.7463;FS=319.866;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=4.37;SOR=10.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,56:164:99:0|1:106010659_C_G:1373,0,4236:106010659	3	0	3	4
chr11	106010666	106010666	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G252C:p.R84S,MSANTD4:NM_001318748:exon2:c.G252C:p.R84S,MSANTD4:NM_001318749:exon2:c.G252C:p.R84S,MSANTD4:NM_001318750:exon2:c.G252C:p.R84S,MSANTD4:NM_032424:exon2:c.G252C:p.R84S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00263902560473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.126	0.35205	T	0.0	0.02946	B	0.002	0.06944	B	0.002354	0.36727	N	0.299972	0.940449	0.37297	D	0	0.06538	N	.	.	.	-0.92	0.30346	N	0.251	0.28381	-1.0080	0.27541	T	0.094	0.35738	T	9	0.1405603	0.26716	T	0.002639	0.05377	T	0.091	0.26358	0.372	0.38340	0.242244723065	0.23846	0.4756825840453807	0.47487	0.36371238007	0.37996	0.486390650272	0.36939	T	0.038357	0.24810	T	-0.044157	0.45330	T	-0.301205	0.44598	T	0.151699825485391	0.17238	T	0.768023	0.39669	T	0.17611994	0.38507	0.08817525	0.20542	0.17611994	0.38507	0.08817525	0.20542	-1.715	0.02269	T	.	.	0.270	0.51532	B	.;.;.	.;.;.	2.446286	0.31491	18.76	0.97835174456350893	0.36285	0.94199	0.60414	D	AEFGBI	0.377723	0.46139	N	-0.305756252056347	0.28928	1.599811	-0.153352819634721	0.33280	1.902022	0.954896934348277	0.28157	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	2.85	0.32333	0.527000	0.22695	0.199000	0.15831	0.599000	0.40250	0.998000	0.41325	0.973000	0.29867	0.998000	0.85391	0.1462:0.4856:0.1263:0.2419	1.994	0.03243	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-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	.	.	.	.	.	.	.	.	0.125	1353.64	125	chr11	106010666	.	C	G	1353.64	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-3.306;DP=1067;ExcessHet=0;FS=282.975;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=4.84;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,55:165:99:0|1:106010659_C_G:1360,0,4283:106010659	3	0	1	6
chr11	106010667	106010667	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G251C:p.R84T,MSANTD4:NM_001318748:exon2:c.G251C:p.R84T,MSANTD4:NM_001318749:exon2:c.G251C:p.R84T,MSANTD4:NM_001318750:exon2:c.G251C:p.R84T,MSANTD4:NM_032424:exon2:c.G251C:p.R84T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.0045302189412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.142	0.33330	T	0.006	0.13644	B	0.028	0.21332	B	0.002354	0.36727	N	0.299972	0.972449	0.38947	D	0.69	0.16971	N	.	.	.	-0.93	0.25118	N	0.472	0.50778	-0.8196	0.53959	T	0.172	0.51421	T	9	0.21586516	0.38151	T	0.00453	0.11157	T	0.261	0.57352	0.4	0.42917	0.368183359018	0.36430	0.4395240752523136	0.43869	0.554340016678	0.52180	0.520652651787	0.41718	T	0.041089	0.25741	T	0.0192097	0.54274	T	-0.210183	0.53679	T	0.5633824467659	0.34983	D	0.816918	0.47330	T	0.12641793	0.29610	0.08971571	0.20995	0.12641793	0.29609	0.08971571	0.20995	-2.359	0.04888	T	.	.	0.161	0.35643	B	.;.;.	.;.;.	3.378534	0.46720	22.3	0.92203589481258563	0.21574	0.98334	0.81734	D	AEFGBI	0.506459	0.53717	D	-0.108043926882725	0.37041	2.14946	0.0663629535781314	0.42871	2.600689	0.997302788968075	0.35478	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	4.01	0.45821	2.982000	0.49027	4.834000	0.45225	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8616:0.0:0.1384	12.064	0.52876	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-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	.	.	.	.	.	.	.	.	0.125	1353.64	125	chr11	106010667	.	C	G	1353.64	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-4.027;DP=1067;ExcessHet=0;FS=282.975;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=4.95;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,55:165:99:0|1:106010659_C_G:1360,0,4283:106010659	3	0	1	6
chr11	113932386	113932386	A	C	exonic	HTR3B	.	nonsynonymous SNV	HTR3B:NM_001363563:exon4:c.A433C:p.S145R,HTR3B:NM_006028:exon5:c.A466C:p.S156R	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.0250066252546	0.0055	0.00179712	0.0041	0.0005	0.0034	0.0001	0.0018	0.0058	0.0033	0.0032	0.0040814	631	154602	rs72466469	0.0049	0.0049	0.0048	0.0050	0.0068	0.0048	0.0048	0.0052	0.0052	0.0007	0.0038	0.0143	0.0001	0.0013	0.0068	0.0053	0.0055	0.0031	0.0040	0.0040	0.0044	0.0036	0.0063	0.0038	0.0037	0.0058	0.0056	0.0009	0	0.0041	0.0121	0	0.0013	0	0.0063	0.0061	0.0035	0.004	0.65419	D	0.084	0.41742	T	0.934	0.58077	P	0.643	0.61279	P	0.012047	0.29308	N	0.421195	0.527966	0.31951	D	1.595	0.40691	L	-1.28	0.79376	T	-2.34	0.51811	N	0.387	0.42834	-0.2710	0.75785	T	0.383	0.73943	T	10	0.01663372	0.00351	T	0.025007	0.47992	D	0.264	0.57741	0.21	0.12781	0.757769487402	0.75556	0.42280760931178624	0.42197	0.25041078572	0.27610	0.319523781538	0.13349	T	0.152105	0.49235	T	-0.315207	0.07298	T	-0.223215	0.52425	T	0.0488645287089559	0.05299	T	0.809719	0.47040	T	0.3483172	0.56935	0.29076025	0.55100	0.3483172	0.56936	0.29076025	0.55099	-3.717	0.19569	T	.	.	0.150	0.33086	B	.;.	.;.	1.647686	0.21022	15.02	0.99737840350303608	0.83264	0.36996	0.25661	N	AEFBI	0.232044	0.35518	N	-0.317441561955011	0.28486	1.57156	-0.43329920996704	0.24026	1.313442	7.90171590104167E-4	0.07810	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.82	0.729	0.17416	1.081000	0.30402	1.366000	0.25918	-0.208000	0.08445	0.291000	0.25242	0.078000	0.22336	0.445000	0.27784	0.6577:0.0:0.2158:0.1265	4.941	0.13316	864	0.32732	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	0.008560	0.000000	0.013587	0.002924	0.000000	0.008621	0.015244	0.003788	0.05	1754.43	33	chr11	113932386	.	A	C	1754.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.693;DP=509;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-0.529;SOR=0.696	GT:AD:DP:GQ:PL	0/1:87,78:165:99:1766,0,2193	9	0	1	0
chr11	117995616	117995616	T	C	exonic	IL10RA	.	nonsynonymous SNV	IL10RA:NM_001558:exon6:c.T716C:p.F239S	Inflammatory bowel disease 28, early onset, autosomal recessive, Autosomal recessive	0	1519	2	1	0	4	0.00131492	.	.	.	724210	Inflammatory_bowel_disease_28	MONDO:MONDO:0013153,MedGen:C2751053,OMIM:613148,Orphanet:238569	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.166	.	.	0.00199681	0.0014	0	8.637e-05	0	0	2.997e-05	0.0022	0.0099	0.0011837	183	154602	rs541386535	0.0006	0.0006	0.0003	0.0008	0.0088	0.0005	0.0005	0.0083	0.0081	0	0	0	0	0	0.0003	5.396e-06	0.0006	0.0088	0.0003	0.0003	0.0001	0.0004	0.0083	0.0002	0.0002	0.0062	0.0055	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0083	0.56	0.06381	T	0.441	0.13290	T	0.017	0.17573	B	0.015	0.17295	B	0.680880	0.06091	N	1.145840	1	0.08975	N	1.83	0.48079	L	0.47	0.56114	T	-2.04	0.46842	N	0.286	0.32370	-0.9746	0.36213	T	0.150	0.47822	T	10	0.005114436	0.00111	T	.	.	.	0.166	0.42578	0.443	0.49975	0.74969540389	0.74743	0.7755332123887642	0.77503	0.382479432178	0.39578	0.391262114048	0.23848	T	0.188824	0.54286	T	-0.405911	0.02116	T	-0.348306	0.39398	T	0.017416136980953	0.00479	T	0.49745	0.15470	T	0.12422909	0.29153	0.0814436	0.18509	0.12422909	0.29153	0.0814436	0.18509	-2.371	0.04958	T	0.3741934076273508	0.46939	0.134	0.29116	B	.	.	0.961051	0.13376	9.881	0.72932637537241263	0.10147	0.05512	0.11401	N	AEFBCI	0.120758	0.23509	N	-0.865551726478361	0.11669	0.5644062	-0.935730084382771	0.11255	0.5722659	0.999585007768319	0.40607	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.16	-0.332	0.12046	0.219000	0.17426	1.861000	0.29322	0.665000	0.62972	0.000000	0.06391	0.055000	0.21918	0.080000	0.17246	0.0:0.0916:0.5385:0.3698	7.282	0.25492	735	0.53711	.	.	.	.	.	.	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	0.05	2386.43	34	chr11	117995616	.	T	C	2386.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.128;DP=510;ExcessHet=0;FS=1.743;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.255;SOR=0.853	GT:AD:DP:GQ:PL	0/1:102,97:199:99:2398,0,2624	9	0	1	0
chr11	118660658	118660658	A	G	exonic	TREH	.	nonsynonymous SNV	TREH:NM_001301065:exon9:c.T890C:p.I297T,TREH:NM_007180:exon10:c.T983C:p.I328T	Trehalase deficiency	9	1502	11	0	0	11	0.00364842	.	.	.	3409315	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.040	0.00350055060882	0.0041	0.000998403	0.0037	0.0029	0.0029	0	0	0.0055	0.0018	0.0014	0.0024256	375	154602	rs200440695	0.0044	0.0044	0.0046	0.0042	0.0056	0.0043	0.0043	0.0051	0.0051	0.0008	0.0016	0.0016	2.536e-05	9.451e-05	0.0056	0.0053	0.0043	0.0016	0.0028	0.0028	0.0030	0.0025	0.0046	0.0026	0.0025	0.0041	0.0040	0.0013	0	0.0029	0.0006	0	0	0.0034	0.0046	0.0014	0.0019	0.039	0.42487	D	0.002	0.79402	D	0.155	0.28155	B	0.1	0.30674	B	0.927565	0.07515	N	1.032410	1	0.08975	N	.	.	.	1.99	0.21666	T	-2.22	0.50337	N	0.124	0.17966	-0.9561	0.39898	T	0.023	0.09832	T	9	0.004912615	0.00105	T	0.003501	0.07939	T	0.040	0.10527	.	.	0.0762999501168	0.06990	0.39121967931502216	0.39036	0.056584794161	0.06250	0.380212664604	0.22287	T	0.15081	0.49046	T	-0.606908	0.00132	T	-0.643742	0.09399	T	0.00433510021244433	0.00046	T	0.724828	0.33863	T	0.047562618	0.08151	0.07519413	0.16528	0.047562618	0.08151	0.07519413	0.16528	-4.986	0.37897	T	.	.	0.061	0.01075	B	.;.	.;.	1.519233	0.19508	14.30	0.87251620157261844	0.17095	0.07549	0.13562	N	AEFDBCI	0.060226	0.11432	N	-0.94904367902249	0.09713	0.4609674	-0.972955120076944	0.10395	0.523282	0.999955890966683	0.48110	0.615755	0.39536	0	0.563428	0.19063	0	0.618376	0.41669	0	0.664235	0.64389	0	.	.	5.24	1.64	0.22949	1.665000	0.37066	1.752000	0.28483	-0.065000	0.16512	0.022000	0.19841	0.002000	0.18203	0.368000	0.26066	0.567:0.0:0.433:0.0	6.804	0.22951	316	0.87161	.;.	.	.	.	.	.	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	0.006042	0.015152	0.002717	0.008772	0.000000	0.034483	0.000000	0.000000	0.05	2231.43	35	chr11	118660658	.	A	G	2231.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.637;DP=502;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.354;SOR=0.719	GT:AD:DP:GQ:PL	0/1:95,90:185:99:2243,0,2303	9	0	1	0
chr11	119190421	119190421	C	T	exonic	CCDC153	.	nonsynonymous SNV	CCDC153:NM_001145018:exon7:c.G512A:p.R171K	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00638779461552	.	.	8.242e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs777815339	4.104e-06	4.104e-06	1.361e-06	6.875e-06	5.797e-05	1.48e-06	9.7e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	8.993e-07	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617	0.05357	T	0.415	0.14326	T	0.557	0.38282	P	0.215	0.37512	B	0.017998	0.27589	N	0.297762	1	0.08975	N	2.77	0.80896	M	1.72	0.26588	T	-0.72	0.20358	N	0.16	0.33796	-1.0559	0.12803	T	0.041	0.17615	T	10	0.1136159	0.21351	T	0.006388	0.16812	T	0.040	0.10527	0.202	0.11659	0.345632371893	0.34166	0.3217599585855418	0.32088	0.477844528706	0.46885	0.424387067556	0.28440	T	0.006599	0.06028	T	-0.278623	0.10813	T	-0.541145	0.18183	T	0.6346555352211	0.37812	D	0.534647	0.17878	T	0.052617397	0.09841	0.053464614	0.09011	0.052617397	0.09840	0.053464614	0.09010	-4.208	0.26867	T	.	.	0.130	0.28807	B	.;.	.;.	2.011801	0.25564	16.81	0.93680511851906367	0.23581	0.04307	0.09857	N	AEFDBI	0.143974	0.26682	N	-0.57369647748909	0.19747	1.035898	-0.62031000302723	0.18972	1.015856	0.00521236854290627	0.10865	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	4.68	2.68	0.30839	1.047000	0.29976	1.031000	0.23480	-0.176000	0.10722	0.172000	0.23960	0.317000	0.24303	0.068000	0.16518	0.0:0.4715:0.4294:0.0991	7.295	0.25561	324	0.86790	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.05	764.43	35	chr11	119190421	.	C	T	764.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.3;DP=380;ExcessHet=0;FS=0.924;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.075;SOR=0.536	GT:AD:DP:GQ:PL	0/1:33,34:67:99:776,0,852	9	0	1	0
chr11	120986219	120986219	C	A	exonic	GRIK4	.	nonsynonymous SNV	GRIK4:NM_001282470:exon20:c.C2830A:p.L944M,GRIK4:NM_014619:exon21:c.C2830A:p.L944M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0514768212205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.047e-07	2.736e-06	0	1.417e-06	1.192e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.192e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.039	0.51112	D	0.649	0.40609	P	0.421	0.45113	B	0.280227	0.14959	U	0.509177	0.832741	0.28738	N	1.39	0.34934	L	2.48	0.14657	T	-0.24	0.10833	N	0.273	0.30914	-1.0933	0.05005	T	0.028	0.12014	T	10	0.15741175	0.29625	T	0.051477	0.64676	D	0.072	0.21020	0.105	0.01753	0.20808081866	0.20439	0.1800520341291403	0.17924	0.498469256429	0.48318	0.771950542927	0.77718	T	0.053341	0.29417	T	-0.210716	0.19279	T	-0.540455	0.18250	T	0.906924486160278	0.56107	D	0.768523	0.39806	T	0.26345515	0.49410	0.2339239	0.48595	0.26345515	0.49410	0.2339239	0.48594	-5.882	0.45281	T	.	.	0.078	0.07937	B	.;.;.	.;.;.	4.013083	0.59222	24.1	0.99254430282163919	0.56989	0.55891	0.29978	D	ALL	0.291524	0.40263	N	0.0899535297210357	0.45994	2.846882	0.161744062743756	0.47768	3.00207	0.999997896971898	0.74766	0.443343	0.08805	1	0.606814	0.50340	0	0.666236	0.60216	0	0.56751	0.32155	0	.	.	4.49	3.56	0.39892	1.558000	0.35917	2.490000	0.32980	0.517000	0.23534	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.6872:0.0:0.3128	6.772	0.22783	715	0.56137	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	525.43	34	chr11	120986219	.	C	A	525.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.394;DP=359;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.399;SOR=0.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,15:46:99:0|1:120986219_C_A:537,0,1246:120986219	9	0	1	0
chr11	120986228	120986228	G	T	exonic	GRIK4	.	stopgain	GRIK4:NM_001282470:exon20:c.G2839T:p.E947X,GRIK4:NM_014619:exon21:c.G2839T:p.E947X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056247	0.22575	N	0.415989	0.999986	0.54805	D	.	.	.	.	.	.	.	.	.	0.456	0.51405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539151	0.95413	D	0.536677	0.95345	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive	High;.;High	10.449476	0.99748	47	0.99627768604403555	0.75837	0.97106	0.72724	D	ALL	0.260994	0.37904	N	0.976456809549024	0.94974	13.19874	0.784202489935734	0.88672	9.671595	0.99999999615992	0.74766	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.56751	0.32155	0	.	.	4.49	3.57	0.40014	8.831000	0.91684	9.790000	0.81641	0.582000	0.30178	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0879:0.0:0.9121:0.0	11.705	0.50858	715	0.56137	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	525.43	34	chr11	120986228	.	G	T	525.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.214;DP=358;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-0.235;SOR=0.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,15:46:99:0|1:120986219_C_A:537,0,1246:120986219	9	0	1	0
chr11	124543040	124543040	G	C	exonic	OR8B12	.	nonsynonymous SNV	OR8B12:NM_001005195:exon1:c.C615G:p.D205E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00184584322732	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776638132	5.473e-06	5.472e-06	5.445e-06	5.501e-06	0.0002	2.35e-06	1.7e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	4.497e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.033	0.53072	D	0.062	0.23277	B	0.101	0.30765	B	0.024590	0.26236	N	0.323408	1	0.08975	N	0.205	0.09354	N	8.76	0.00070	T	-1.62	0.38924	N	0.171	0.18239	-0.9891	0.32828	T	0.000	0.00114	T	10	0.08544126	0.14424	T	0.001846	0.03193	T	0.013	0.01715	0.466	0.53729	0.128392430309	0.12331	0.6580323841298963	0.65740	0.0639304449626	0.07121	0.218791753054	0.01241	T	0.005764	0.05208	T	-0.417482	0.01775	T	-0.736831	0.04025	T	0.0855723118178133	0.10684	T	0.744825	0.36507	T	0.17976373	0.39063	0.112834685	0.27227	0.17976373	0.39063	0.112834685	0.27226	-6.502	0.50302	T	.	.	0.206	0.43172	B	.	.	0.857622	0.12299	8.840	0.8807296924377207	0.17696	0.07108	0.13134	N	AEFDBI	0.119957	0.23390	N	-1.23619717166151	0.04485	0.2025127	-1.30939914705825	0.04307	0.2029078	6.04525235837834E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	-1.24	0.08948	-0.834000	0.04498	.	.	-0.119000	0.14319	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.547:0.0:0.453:0.0	9.055	0.35562	627	0.65350	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	.	.	.	.	.	.	.	.	0.05	2095.43	33	chr11	124543040	.	G	C	2095.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.46;DP=495;ExcessHet=0;FS=1.183;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.952;SOR=0.83	GT:AD:DP:GQ:PL	0/1:95,83:178:99:2107,0,2314	9	0	1	0
chr11	124992653	124992653	C	G	exonic	CCDC15	.	nonsynonymous SNV	CCDC15:NM_025004:exon10:c.C2105G:p.P702R	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00793098233453	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245621565	6.928e-07	1.368e-06	1.375e-06	0	9.075e-07	0	0	.	.	0	0	0	0	0	0	9.075e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.11406	T	0.278	0.21812	T	0.186	0.29254	B	0.085	0.29395	B	0.624679	0.05777	N	1.260260	1	0.08975	N	2.065	0.56745	M	1.16	0.38073	T	-3.34	0.66325	D	0.196	0.35727	-1.0012	0.29574	T	0.086	0.33438	T	10	0.119220555	0.22557	T	0.007931	0.21033	T	0.041	0.10877	0.348	0.34436	0.132336055621	0.12781	0.07785713229279213	0.07721	0.0189563370722	0.01848	0.305955171585	0.11296	T	0.252756	0.62319	T	-0.20405	0.20222	T	-0.53088	0.19199	T	0.232007473707199	0.22047	T	0.482252	0.14601	T	0.26764494	0.49837	0.22405389	0.47305	0.26764494	0.49837	0.22405389	0.47304	-6.49	0.50209	T	.	.	0.161	0.39356	B	.;.	.;.	2.313833	0.29619	18.18	0.98457539918603998	0.41699	0.13511	0.17898	N	AEFBI	0.045554	0.07462	N	-0.774328018900953	0.13982	0.692845	-0.846938886432282	0.13361	0.6927078	5.13494702453651E-4	0.07201	0.638212	0.43195	0	0.588066	0.40923	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	4.69	1.7	0.23359	0.227000	0.17575	.	.	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.088000	0.17685	0.3432:0.4908:0.1659:0.0	7.439	0.26342	898	0.25240	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	795.43	44	chr11	124992653	.	C	G	795.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.028;DP=429;ExcessHet=0;FS=1.894;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.589;SOR=0.766	GT:AD:DP:GQ:PL	0/1:36,39:75:99:807,0,863	9	0	1	0
chr11	128810767	128810767	A	C	exonic	FLI1	.	nonsynonymous SNV	FLI1:NM_001271012:exon7:c.A559C:p.K187Q,FLI1:NM_002017:exon9:c.A1138C:p.K380Q,FLI1:NM_001167681:exon10:c.A1039C:p.K347Q,FLI1:NM_001271010:exon10:c.A940C:p.K314Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.0679733187552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.50132	D	0.052	0.48080	T	0.992	0.70673	D	0.889	0.75168	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.62	0.76659	M	0.59	0.53943	T	-2.89	0.60665	D	0.663	0.69213	-0.2775	0.75609	T	0.357	0.71990	T	10	0.64651424	0.69357	D	0.067973	0.70319	D	0.272	0.58758	0.392	0.41606	0.797265968075	0.79538	0.8308058206196618	0.83039	2.09786414958	0.94786	0.757673621178	0.75583	T	0.617372	0.87958	D	0.0387728	0.56886	T	-0.182082	0.56331	T	0.947067439556122	0.62602	D	0.962904	0.87805	D	0.454512	0.64327	0.3208318	0.58036	0.454512	0.64328	0.3208318	0.58035	-7.957	0.77590	D	0.4547754449873175	0.53796	0.600	0.68863	P	.;.;.;.	.;.;.;.	4.311984	0.65921	24.9	0.99442868459519351	0.64870	0.98836	0.87495	D	AEFBI	0.900988	0.84716	D	0.832166240684762	0.88069	9.442578	0.795347256025094	0.89466	9.987292	0.999999989838226	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	5.34	5.34	0.75982	9.268000	0.94851	11.277000	0.91602	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	1.0:0.0:0.0:0.0	15.483	0.75275	724	0.55085	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	3867.43	34	chr11	128810767	.	A	C	3867.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.389;DP=616;ExcessHet=0;FS=3.117;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.04;SOR=0.535	GT:AD:DP:GQ:PL	0/1:146,156:302:99:3879,0,3634	9	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	.	.	.	.	.	.	.	.	0.2222	1238.83	54	chr12	4591261	.	G	C	1238.83	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-2.278;DP=748;ExcessHet=4.5998;FS=280.048;InbreedingCoeff=-0.4825;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=2.78;ReadPosRankSum=1.18;SOR=10.841	GT:AD:DP:GQ:PL	0/1:58,29:87:99:144,0,868	5	0	4	1
chr12	6521963	6521963	C	T	exonic	NCAPD2	.	nonsynonymous SNV	NCAPD2:NM_014865:exon15:c.C1880T:p.A627V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0313972179158	.	.	2.471e-05	0	0	0	0	4.496e-05	0	0	1.94e-05	3	154602	rs759517573	3.147e-05	3.147e-05	3.131e-05	3.163e-05	4.047e-05	2.412e-05	2.157e-05	3.085e-05	2.753e-05	0	0	0	0	0	0	4.047e-05	1.656e-05	0	2.627e-05	2.625e-05	1.285e-05	4.031e-05	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.407e-05	0	0	0	0	0	0	4.411e-05	0	0	0.017	0.51248	D	0.021	0.59732	D	0.985	0.61118	D	0.834	0.59825	P	0.000000	0.84330	D	0.049795	0.999921	0.51968	D	1.495	0.37439	L	2.12	0.39586	T	-2.13	0.48354	N	0.608	0.62526	-0.8435	0.52413	T	0.172	0.51373	T	10	0.36485195	0.53019	T	0.031397	0.53490	D	0.199	0.48268	0.487	0.57098	0.676786465919	0.67404	0.44084035203941996	0.44001	0.619825417113	0.56322	0.494486957788	0.38061	T	0.050196	0.28526	T	-0.0567938	0.43408	T	-0.162991	0.58081	T	0.480961829423904	0.31932	T	0.89681	0.63970	D	0.22252454	0.44853	0.23695776	0.48981	0.22252454	0.44853	0.23695776	0.48980	-9.497	0.70840	D	.	.	0.411	0.61765	A	.;.	.;.	4.538330	0.71308	25.7	0.99914957691676953	0.98309	0.98522	0.83679	D	AEFBI	0.605520	0.59620	D	0.522188758138162	0.68402	5.212508	0.567011983073682	0.72588	5.833714	0.999999996926438	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	5.200000	0.64994	7.588000	0.61163	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.868000	0.41282	0.0:1.0:0.0:0.0	20.242	0.98383	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	694.43	33	chr12	6521963	.	C	T	694.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.42;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=1.82;SOR=0.756	GT:AD:DP:GQ:PL	0/1:36,30:66:99:706,0,813	9	0	1	0
chr12	8851792	8851792	G	A	exonic	A2ML1	.	nonsynonymous SNV	A2ML1:NM_001282424:exon8:c.G770A:p.G257E,A2ML1:NM_144670:exon19:c.G2243A:p.G748E	.	.	.	.	.	.	.	.	.	.	.	241592	not_provided|A2ML1-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.259	.	8e-05	0.0061901	0.0016	0.0001	0	0.0205	0	0	0.0023	0.0007	0.0015782	244	154602	rs74582459	0.0007	0.0007	0.0007	0.0007	0.0231	0.0007	0.0007	0.0219	0.0214	0	0	0	0.0231	0	0	8.993e-06	0.0013	0.0008	0.0010	0.0010	0.0008	0.0012	0.0262	0.0009	0.0008	0.0226	0.0213	0	0	6.542e-05	0	0.0262	0	0	0	0.0009	0.0027	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000297	0.46274	D	0.000000	0.980072	0.39628	D	2.655	0.77738	M	1.6	0.28604	T	-7.61	0.95366	D	0.582	0.60664	-0.7737	0.56653	T	0.078	0.31042	T	10	0.005795121	0.00129	T	.	.	.	0.259	0.57090	.	.	0.235038932564	0.23097	0.8917392604453227	0.89143	0.601202011732	0.55167	0.507749915123	0.39907	T	0.091947	0.43709	T	-0.352594	0.04565	T	-0.262333	0.48590	T	0.106481521449583	0.13056	T	0.788221	0.42759	T	0.75093985	0.80923	0.83583015	0.90565	0.81488824	0.84879	0.82743156	0.90018	-9.823	0.72845	D	.	.	0.356	0.57548	A	.;.;.	.;.;.	3.566028	0.50200	22.9	0.99696557709229416	0.80316	0.98089	0.79505	D	AEFBI	0.753284	0.69352	D	0.467141043831537	0.65182	4.79049	0.299784091797509	0.55526	3.715657	0.753321664306849	0.23395	0.744818	0.98587	0	0.563428	0.19063	0	0.732433	0.93434	0	0.564101	0.26826	0	.	.	2.75	2.75	0.31439	4.887000	0.62848	4.413000	0.43288	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.052000	0.15357	0.0:0.0:1.0:0.0	13.179	0.59063	724	0.55085	Alpha-2-macroglobulin|Alpha-2-macroglobulin;Alpha-2-macroglobulin|Alpha-2-macroglobulin;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2793.43	33	chr12	8851792	.	G	A	2793.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=532;ExcessHet=0;FS=1.061;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.113;SOR=0.799	GT:AD:DP:GQ:PL	0/1:115,109:224:99:2805,0,2925	9	0	1	0
chr12	9181030	9181030	G	A	exonic	PZP	.	stopgain	PZP:NM_002864:exon15:c.C1792T:p.Q598X	.	2	1517	3	0	0	3	0.000987817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151757	0.0063	0.0002	8.685e-05	0.0830	0	0.0002	0.0055	0.0013	0.0058214	900	154602	rs117889746	0.0026	0.0026	0.0026	0.0026	0.0817	0.0025	0.0025	0.0793	0.0784	8.962e-05	0.0001	0.0010	0.0817	0	0.0003	0.0001	0.0041	0.0017	0.0031	0.0031	0.0025	0.0037	0.0795	0.0028	0.0028	0.0732	0.0707	0.0002	0	0.0005	0.0006	0.0795	0	0	0.0002	0.0038	0.0041	.	.	.	.	.	.	.	.	.	.	.	.	0.632433	0.10675	U	0.783752	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.832	0.82761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165975	0.70753	D	0.529014	0.95190	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.919197	0.95912	35	0.99679128048901045	0.79108	0.65210	0.32661	D	AEFDI	0.095816	0.19352	N	0.513546032845782	0.67891	5.142496	0.253595282214149	0.52853	3.457545	0.00208639768189635	0.09143	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.03	2.08	0.26079	-0.384000	0.07447	2.196000	0.31247	0.509000	0.23192	0.944000	0.32806	1.000000	0.68203	0.602000	0.31438	0.0:0.0:0.772:0.228	8.746	0.33747	680	0.59965	Alpha-2-macroglobulin, N-terminal 2|Alpha-2-macroglobulin, N-terminal 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	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.012195	0.000000	0.05	1536.43	34	chr12	9181030	.	G	A	1536.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.39;DP=473;ExcessHet=0;FS=2.075;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-0.249;SOR=0.897	GT:AD:DP:GQ:PL	0/1:83,65:148:99:1548,0,1929	9	0	1	0
chr12	9971688	9971688	G	A	splicing	CLEC12A	NM_001207010:exon2:c.121+1G>A;NM_001300730:exon1:c.91+1G>A;NM_138337:exon1:c.91+1G>A;NM_201623:exon1:c.91+1G>A	.	.	.	458	1061	2	1	0	4	0.00188147	0.9999	0.908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.000399361	0.0012	0.0002	0.0011	0	0	0.0019	0.0011	6.106e-05	0.0011837	183	154602	rs148336258	0.0017	0.0017	0.0017	0.0017	0.0020	0.0016	0.0016	0.0019	0.0019	0.0002	0.0014	0.0023	2.539e-05	0.0002	0.0011	0.0020	0.0015	0.0003	0.0012	0.0012	0.0012	0.0013	0.0025	0.0011	0.0010	0.0019	0.0016	0.0003	0	0.0025	0.0014	0	9.425e-05	0	0.0018	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0426784	0.45550	T	0.159443	0.80772	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.016181	0.83334	28.0	0.98973970437491421	0.49600	0.88378	0.48278	D	AEFBI	.	.	.	0.934288793669637	0.93335	11.972	0.724760349881292	0.84260	8.242396	0.999999292611802	0.74766	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.960006	0.65302	4.12	4.12	0.47504	3.125000	0.50162	10.218000	0.83247	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.672000	0.33309	0.0:0.0:1.0:0.0	12.154	0.53371	929	0.16858	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	982.43	35	chr12	9971688	.	G	A	982.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.657;DP=366;ExcessHet=0;FS=2.391;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.37;ReadPosRankSum=-0.76;SOR=1.085	GT:AD:DP:GQ:PL	0/1:22,38:60:99:994,0,522	9	0	1	0
chr12	27502087	27502087	T	G	exonic	SMCO2	.	nonsynonymous SNV	SMCO2:NM_001145010:exon9:c.T998G:p.L333W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0132616580708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.436e-06	1.369e-06	0	2.911e-06	1.858e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.858e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.002959	0.35672	N	0.000000	0.734214	0.33752	D	1.625	0.41611	L	.	.	.	-4.22	0.75854	D	0.746	0.77601	-0.4903	0.68998	T	0.219	0.58137	T	9	0.7023571	0.72523	D	0.013262	0.32524	T	0.278	0.59497	0.345	0.33950	0.31411915649	0.31020	0.5723125833130371	0.57159	.	.	0.570101737976	0.48691	T	0.119059	0.44032	T	0.293614	0.82450	D	0.18398	0.82225	D	0.995461404323578	0.87473	D	0.69643	0.30590	T	0.4654437	0.65010	0.598	0.76648	0.4654437	0.65011	0.598	0.76649	-8.814	0.66492	D	.	.	0.318	0.54375	B	.;.;.	.;.;.	3.751646	0.53775	23.4	0.96475596017760357	0.29953	0.79183	0.39189	D	AEFGBIJ	0.287296	0.39948	N	0.424335374776354	0.62764	4.497752	0.39492808322368	0.61251	4.322679	0.941196856585795	0.27465	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.28	4.28	0.50183	3.012000	0.49262	3.577000	0.39144	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.871000	0.41478	0.0:0.0:0.0:1.0	10.000	0.41096	803	0.44167	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	657.43	35	chr12	27502087	.	T	G	657.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.069;DP=394;ExcessHet=0;FS=4.581;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=0.992;SOR=1.519	GT:AD:DP:GQ:PL	0/1:18,24:42:99:669,0,484	9	0	1	0
chr12	29311098	29311098	C	T	exonic	FAR2	.	nonsynonymous SNV	FAR2:NM_001271784:exon6:c.C548T:p.T183I,FAR2:NM_001271783:exon7:c.C839T:p.T280I,FAR2:NM_018099:exon7:c.C839T:p.T280I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00265185455124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.03502	T	0.701	0.06147	T	0.009	0.15093	B	0.012	0.16012	B	0.001156	0.40056	N	0.212030	0.99353	0.23694	N	-0.695	0.01866	N	1.98	0.21865	T	2.73	0.00184	N	0.205	0.22742	-0.9411	0.42442	T	0.011	0.03996	T	10	0.03974697	0.02489	T	0.002652	0.05406	T	0.067	0.19503	0.562	0.68229	0.168254554758	0.16434	0.6445084295669288	0.64385	0.478096384883	0.46899	0.323771834373	0.13992	T	0.034525	0.23358	T	-0.235002	0.15991	T	-0.57534	0.14963	T	0.106398269534111	0.13047	T	0.80472	0.45238	T	0.049099836	0.08663	0.04227831	0.05000	0.049099836	0.08663	0.04227831	0.05000	-1.041	0.01437	T	.	.	0.083	0.16054	B	.;.;.	.;.;.	1.064764	0.14465	11.04	0.84620371807550532	0.15398	0.42766	0.26950	N	AEFBI	0.118235	0.23128	N	-0.899118992945602	0.10863	0.5212559	-0.699685928821288	0.16968	0.9001243	1.62962658824067E-4	0.05721	0.719381	0.83141	0	0.670034	0.63936	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	4.38	1.56	0.22423	1.432000	0.34545	0.226000	0.16132	0.580000	0.29708	0.883000	0.31049	0.003000	0.18671	0.966000	0.53164	0.0:0.7435:0.0:0.2565	6.917	0.23547	951	0.11083	Male sterility, NAD-binding;Male sterility, NAD-binding;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	607.22	33	chr12	29311098	.	C	T	607.22	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.337;DP=703;ExcessHet=0.2348;FS=112.827;InbreedingCoeff=-0.1149;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.15;ReadPosRankSum=1.09;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,19:125:99:0|1:29311098_C_T:159,0,4039:29311098	8	0	2	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	.	.	.	.	.	.	.	.	0.35	1393.03	83	chr12	39764776	.	G	C	1393.03	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.279;DP=513;ExcessHet=10.3881;FS=336.368;InbreedingCoeff=-0.6794;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=3.51;ReadPosRankSum=1.11;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:16,17:36:97:.:.:97,0,222:.	3	0	7	0
chr12	40479239	40479239	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	556	964	2	0	0	2	0.00103627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0274807835507	.	0.000599042	0	0	.	.	.	0	.	.	0.0001537	4	26028	rs549466441	0.0001	8.278e-05	0.0001	0.0001	0.0025	0.0001	0.0001	0.0019	0.0017	0.0009	0	0	0	0	0	6.827e-05	0.0004	0.0025	0.0005	0.0005	0.0004	0.0006	0.0015	0.0004	0.0004	0.0009	0.0008	0.0011	0	0.0005	0	0	9.432e-05	0	0.0002	0	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	.	.	.	.	.	.	.	.	0.05	5194.43	35	chr12	40479239	.	C	T	5194.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.936;DP=3390;ExcessHet=0;FS=2.141;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.208;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,196:395:99:0|1:40479224_G_A:5206,0,5357:40479224	9	0	1	0
chr12	40479577	40479577	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	564	949	9	0	0	9	0.00471945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0157545287314	.	.	0	0	.	.	.	.	.	.	0.000461	12	26028	rs566225503	0.0011	0.0006	0.0010	0.0011	0.0022	0.0010	0.0010	0.0016	0.0014	6.334e-05	0	0	0.0003	0.0036	0.0006	0.0011	0.0014	0.0022	0.0007	0.0007	0.0006	0.0008	0.0025	0.0006	0.0006	0.0014	0.0011	0.0003	0	0.0009	0	0.0002	0.0007	0	0.0009	0.0009	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	7444.43	394	chr12	40479577	.	G	A	7444.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.21;DP=4178;ExcessHet=0;FS=3.211;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-1.001;SOR=0.853	GT:AD:DP:GQ:PL	0/1:257,272:529:99:7456,0,6150	9	0	1	0
chr12	40486500	40486500	C	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1720.25	923	chr12	40486500	.	C	*	1720.25	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.871;DP=10569;ExcessHet=4.5998;FS=15.379;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.25;MQ=56.54;MQRankSum=4.74;QD=0.31;ReadPosRankSum=-4.885;SOR=1.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:469,409:878:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:15805,0,18377:40486484	5	0	5	0
chr12	40486506	40486506	A	0	exonic	MUC19	.	.	.	.	600	654	129	2	137	270	0.092297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1680.87	923	chr12	40486506	.	A	*	1680.87	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.05;DP=10709;ExcessHet=4.5998;FS=15.598;InbreedingCoeff=-0.6667;MLEAC=6;MLEAF=0.5;MQ=56.69;MQRankSum=4.55;QD=0.3;ReadPosRankSum=-7.683;SOR=1.22	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:469,409:878:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:15805,0,18377:40486484	1	0	5	4
chr12	40486507	40486507	G	0	exonic	MUC19	.	.	.	.	596	657	130	2	137	271	0.0925414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1677.87	923	chr12	40486507	.	G	*	1677.87	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.013;DP=10710;ExcessHet=4.5998;FS=15.598;InbreedingCoeff=-0.6667;MLEAC=6;MLEAF=0.5;MQ=56.7;MQRankSum=4.54;QD=0.3;ReadPosRankSum=-8.034;SOR=1.221	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:469,409:878:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:15805,0,18377:40486484	1	0	5	4
chr12	40486514	40486514	G	0	exonic	MUC19	.	.	.	.	645	616	122	2	137	263	0.0927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1626.87	923	chr12	40486514	.	G	*	1626.87	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.88;DP=10703;ExcessHet=4.5998;FS=15.453;InbreedingCoeff=-0.6667;MLEAC=6;MLEAF=0.5;MQ=57.06;MQRankSum=4.22;QD=0.29;ReadPosRankSum=-9.992;SOR=1.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:469,409:878:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:15805,0,18377:40486484	1	0	5	4
chr12	40487346	40487346	A	T	exonic	MUC19	.	unknown	UNKNOWN	.	540	947	31	0	4	35	0.0161039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326292392	0	1.325e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0031	0.0003	0.0003	0.0007	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0004	0	0.0005	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	979.43	901	chr12	40487346	.	A	T	979.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=9009;ExcessHet=0;FS=26.842;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.13;MQRankSum=-21.93;QD=1.11;ReadPosRankSum=7.14;SOR=3.463	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:799,84:883:99:0|1:40487326_C_A:991,0,33183:40487326	9	0	1	0
chr12	40487347	40487347	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	538	950	30	0	4	34	0.015544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206361857	0	1.395e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0025	0.0002	0.0002	0.0005	0.0001	0.0001	0.0001	8.09e-05	0.0001	0	0.0002	0.0003	0	0.0003	0	0.0002	0.0011	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	986.43	901	chr12	40487347	.	G	C	986.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.54;DP=9011;ExcessHet=0;FS=26.82;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.1;MQRankSum=-21.75;QD=1.12;ReadPosRankSum=7.21;SOR=3.32	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:796,84:881:99:0|1:40487326_C_A:998,0,33144:40487326	9	0	1	0
chr12	40487354	40487354	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	544	938	36	0	4	40	0.0188285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265246174	0	6.857e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0041	0.0004	0.0004	0.0009	0.0003	0.0003	0.0002	0.0002	0.0003	0	0.0005	0.0005	0	0.0007	0	0.0004	0.0027	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	924.82	901	chr12	40487354	.	G	A	924.82	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.49;DP=9035;ExcessHet=0;FS=29.505;InbreedingCoeff=-0.0745;MLEAC=1;MLEAF=0.05;MQ=56;MQRankSum=-22.33;QD=1.03;ReadPosRankSum=8.81;SOR=3.48	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:818,84:902:99:0|1:40487326_C_A:936,0,34021:40487326	9	0	1	0
chr12	40487370	40487370	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	530	937	55	0	0	55	0.0285122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434790702	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0028	0.0002	0.0002	0.0003	0.0001	0.0001	9.092e-05	6.022e-05	0.0001	0	0.0003	0.0003	0	0.0002	0	0.0001	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1008.43	901	chr12	40487370	.	C	G	1008.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.292;DP=9003;ExcessHet=0;FS=29.724;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.62;MQRankSum=-23.5;QD=1.15;ReadPosRankSum=8.75;SOR=3.48	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:790,84:874:99:0|1:40487326_C_A:1020,0,32879:40487326	9	0	1	0
chr12	40487373	40487373	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	536	929	57	0	0	57	0.029765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1199349600	0	5.474e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	8.547e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	994.43	901	chr12	40487373	.	A	G	994.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.836;DP=9011;ExcessHet=0;FS=29.934;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.62;MQRankSum=-23.8;QD=1.13;ReadPosRankSum=8.45;SOR=3.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:795,84:879:99:0|1:40487326_C_A:1006,0,33068:40487326	9	0	1	0
chr12	40487375	40487375	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	533	933	56	0	0	56	0.0291363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362941780	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	7.934e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1015.43	901	chr12	40487375	.	G	C	1015.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.643;DP=9006;ExcessHet=0;FS=29.934;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.62;MQRankSum=-24.22;QD=1.16;ReadPosRankSum=8.25;SOR=3.48	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:788,84:872:99:0|1:40487326_C_A:1027,0,32774:40487326	9	0	1	0
chr12	40487377	40487377	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	537	927	58	0	0	58	0.0303347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1471742152	0	3.832e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0031	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0001	0.0001	0	0.0004	0.0003	0.0002	0.0002	0	0.0002	0.0020	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1019.43	901	chr12	40487377	.	C	G	1019.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.51;DP=9009;ExcessHet=0;FS=30.132;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.47;MQRankSum=-23.99;QD=1.17;ReadPosRankSum=7.86;SOR=3.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:787,84:871:99:0|1:40487326_C_A:1031,0,32724:40487326	9	0	1	0
chr12	40487388	40487388	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	532	936	54	0	0	54	0.0280374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs552463164	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0030	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0003	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1047.43	901	chr12	40487388	.	C	G	1047.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.061;DP=9005;ExcessHet=0;FS=30.132;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.38;MQRankSum=-24.35;QD=1.22;ReadPosRankSum=5.54;SOR=3.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:778,84:862:99:0|1:40487326_C_A:1059,0,32346:40487326	9	0	1	0
chr12	40487403	40487403	G	T	exonic	MUC19	.	unknown	UNKNOWN	.	531	933	58	0	0	58	0.0301455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1387815853	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0030	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0001	0	0.0005	0.0003	0	0.0002	0	0.0003	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1043.43	901	chr12	40487403	.	G	T	1043.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.848;DP=9038;ExcessHet=0;FS=29.934;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.99;MQRankSum=-25.15;QD=1.2;ReadPosRankSum=0.569;SOR=3.48	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:782,84:866:99:0|1:40487326_C_A:1055,0,32521:40487326	9	0	1	0
chr12	40487418	40487418	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	527	933	62	0	0	62	0.0321577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796103026	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0031	0.0005	0.0004	0.0009	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0009	0.0003	0	0.0004	0	0.0006	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	925.73	901	chr12	40487418	.	G	C	925.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-3.77;DP=9765;ExcessHet=0;FS=30.619;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=54.48;MQRankSum=-26.48;QD=1.1;ReadPosRankSum=-4.091;SOR=3.423	GT:AD:DP:GQ:PL	0/1:760,80:842:99:936,0,32022	7	0	1	2
chr12	40487421	40487421	-	CCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	exonic	MUC19	.	unknown	UNKNOWN	.	528	938	56	0	0	56	0.0289855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0030	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0007	0.0006	0	0.0003	0	0.0005	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	766.39	901	chr12	40487421	.	G	GCCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	766.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.938;DP=9799;ExcessHet=0;FS=27.827;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.07;MQRankSum=-25.42;QD=0.91;ReadPosRankSum=-8.458;SOR=3.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:767,76:843:99:0|1:40487326_C_A:778,0,31945:40487326	9	0	1	0
chr12	40487424	40487424	-	TGG	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394452281	0	6.859e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.247e-05	0.0036	3.291e-05	5.266e-05	0.0003	1.641e-05	1.002e-05	6.32e-06	2.36e-06	2.999e-05	0	0	0	0.0003	0.0001	0	3.809e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	31329.3	901	chr12	40487424	.	T	TTGG	31329.3	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=10334;ExcessHet=15.1594;FS=3.513;InbreedingCoeff=-0.8182;MLEAC=1;MLEAF=0.05;MQ=56.49;MQRankSum=-24.25;QD=5.99;ReadPosRankSum=4.67;SOR=1.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:773,0:773:69:.:.:4744,0,31911:.	9	0	1	0
chr12	40509053	40509053	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	561	887	71	3	0	77	0.0415991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796340531	3.486e-05	0.0002	3.413e-05	3.563e-05	.	5.78e-06	2.16e-06	.	.	0	0	0	0	0.0004	0	0	0	0	5.923e-05	0.0006	5.149e-05	6.731e-05	0.0002	3.081e-05	2.213e-05	6.279e-05	4.297e-05	0.0001	0	0.0002	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	.	.	.	.	.	.	.	.	0.2	649.82	33	chr12	40509053	.	T	A	649.82	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.69;DP=1506;ExcessHet=0.2348;FS=1.31;InbreedingCoeff=-0.2903;MLEAC=3;MLEAF=0.3;MQ=59.26;MQRankSum=-12.3;QD=1.71;ReadPosRankSum=3.27;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,20:183:99:0|1:40509053_T_A:349,0,6767:40509053	3	0	2	5
chr12	40509056	40509056	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	559	887	73	3	0	79	0.0426336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305621476	1.742e-05	0.0002	0	3.572e-05	.	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0005	0	0	.	0	0	.	.	0	0	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	.	.	.	.	.	.	.	.	0.2	640.82	33	chr12	40509056	.	G	A	640.82	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.08;DP=1499;ExcessHet=0.2348;FS=1.3;InbreedingCoeff=-0.2903;MLEAC=3;MLEAF=0.3;MQ=59.25;MQRankSum=-12.3;QD=1.68;ReadPosRankSum=3.28;SOR=0.809	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,20:183:99:0|1:40509053_T_A:349,0,6784:40509053	3	0	2	5
chr12	40509061	40509061	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	891	71	3	0	77	0.0414201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348486958	3.908e-05	0.0002	3.806e-05	4.015e-05	2.421e-05	6.48e-06	2.42e-06	.	.	0	0	0	0	0.0002	0	2.421e-05	0	0	9.211e-05	0.0006	9.011e-05	9.421e-05	0.0003	5.535e-05	4.37e-05	0.0001	0.0001	0.0003	0	0.0002	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	.	.	.	.	.	.	.	.	0.1667	528.9	33	chr12	40509061	.	G	C	528.9	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.35;DP=1520;ExcessHet=0.2348;FS=0.624;InbreedingCoeff=-0.2766;MLEAC=3;MLEAF=0.25;MQ=59.35;MQRankSum=-12.38;QD=1.36;ReadPosRankSum=3.41;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,19:187:99:0|1:40509053_T_A:292,0,6967:40509053	4	0	2	4
chr12	40509062	40509062	A	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	890	72	3	0	78	0.0419806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239171133	3.865e-05	0.0002	3.759e-05	3.976e-05	2.401e-05	6.41e-06	2.4e-06	.	.	0	0	0	0	0.0002	0	2.401e-05	0	0	0	0.0004	0	0	.	0	0	.	.	0	0	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	.	.	.	.	.	.	.	.	0.1667	492.9	33	chr12	40509062	.	A	C	492.9	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.04;DP=1521;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.2766;MLEAC=3;MLEAF=0.25;MQ=59.4;MQRankSum=-12.25;QD=1.28;ReadPosRankSum=3.33;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,18:185:99:0|1:40509053_T_A:253,0,6928:40509053	4	0	2	4
chr12	40509076	40509076	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	553	907	60	2	0	64	0.0340788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796925819	3.366e-05	0.0002	6.615e-05	0	5.131e-05	0	0	.	.	0	0	0	0	0	0	5.131e-05	0	0	6.575e-06	0.0004	0	1.345e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-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	.	.	.	.	.	.	.	.	0.1667	283.98	33	chr12	40509076	.	G	A	283.98	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.44;DP=1516;ExcessHet=0.2348;FS=0.667;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.25;MQ=59.5;MQRankSum=-12.22;QD=0.74;ReadPosRankSum=2.14;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,17:186:99:0|1:40509076_G_A:205,0,6916:40509076	4	0	2	4
chr12	40509081	40509081	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	552	908	60	2	0	64	0.0340426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796068417	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	9.204e-05	0.0005	0.0001	8.068e-05	0.0003	5.531e-05	4.367e-05	0.0001	0.0001	0.0003	0	0.0002	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	.	.	.	.	.	.	.	.	0.2	288.82	33	chr12	40509081	.	T	C	288.82	.	AC=2;AF=0.2;AN=10;BaseQRankSum=3.44;DP=1504;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.2903;MLEAC=3;MLEAF=0.3;MQ=59.49;MQRankSum=-12.12;QD=0.76;ReadPosRankSum=1.76;SOR=0.752	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,17:183:99:0|1:40509076_G_A:214,0,6862:40509076	3	0	2	5
chr12	40561027	40561027	G	T	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210033681	8.769e-05	6.977e-05	9.029e-05	8.499e-05	0.0001	7.335e-05	6.842e-05	9.174e-05	8.557e-05	0	0	0	0	0	0	0.0001	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	703.43	38	chr12	40561027	.	G	T	703.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.065;DP=349;ExcessHet=0;FS=1.065;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.828;SOR=0.536	GT:AD:DP:GQ:PL	0/1:23,27:50:99:715,0,564	9	0	1	0
chr12	45852519	45852519	A	G	exonic	ARID2	.	nonsynonymous SNV	ARID2:NM_001347839:exon15:c.A4396G:p.S1466G,ARID2:NM_152641:exon15:c.A4396G:p.S1466G	.	429	1092	1	0	0	1	0.000457666	.	.	.	2774809	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.209	0.0125058065254	7.7e-05	.	7.415e-05	9.612e-05	0.0004	0	0	2.997e-05	0	6.056e-05	6.47e-05	10	154602	rs141396339	1.915e-05	1.915e-05	2.45e-05	1.375e-05	0.0002	1.328e-05	1.144e-05	4.358e-05	2.767e-05	0	0.0001	0	0	0	0.0002	1.529e-05	1.656e-05	4.637e-05	2.626e-05	3.281e-05	1.285e-05	4.028e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.406e-05	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.075	0.45530	T	0.982	0.63424	D	0.952	0.74454	D	0.000039	0.55875	D	0.225384	0.927833	0.42492	D	1.04	0.26193	L	1.31	0.35405	T	-0.51	0.22944	N	0.658	0.77601	-0.8768	0.50013	T	0.137	0.45280	T	10	0.41568485	0.56525	T	0.012506	0.31146	T	0.209	0.49871	.	.	0.36413608308	0.36018	0.1961289181450538	0.19529	0.529290241434	0.50498	0.581927061081	0.50357	T	0.037084	0.24346	T	-0.130468	0.31422	T	-0.155885	0.58719	T	0.249917635582466	0.22869	T	0.861714	0.55578	D	0.36514628	0.58224	0.2569578	0.51404	0.36514628	0.58225	0.2569578	0.51403	-4.48	0.30626	T	.	.	0.134	0.37895	B	.;.;.;.	.;.;.;.	4.334617	0.66445	25.0	0.99673890086532613	0.78782	0.96957	0.71871	D	AEFBI	0.551342	0.56345	D	0.595090745516831	0.72868	5.87386	0.649612381939147	0.78580	6.905287	0.799516032727889	0.24161	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	4.584000	0.60682	11.207000	0.89260	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8695:0.0:0.0:0.1305	11.844	0.51647	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	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	2576.43	37	chr12	45852519	.	A	G	2576.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.753;DP=548;ExcessHet=0;FS=5.308;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.336;SOR=0.603	GT:AD:DP:GQ:PL	0/1:134,102:236:99:2588,0,3541	9	0	1	0
chr12	49033739	49033739	G	A	exonic	KMT2D	.	nonsynonymous SNV	KMT2D:NM_003482:exon40:c.C10966T:p.R3656C	Kabuki syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	138449	Kabuki_syndrome_1|not_provided|Kabuki_syndrome|not_specified	MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322|MedGen:C3661900|MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.815	0.713018745315	0.0002	.	7.69e-05	0	0	0	0	0.0001	0	0	6.47e-05	10	154602	rs201283589	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.772e-05	0.0001	0.0001	2.988e-05	8.951e-05	0.0006	0	0	0.0005	0.0001	9.94e-05	1.159e-05	7.889e-05	7.881e-05	6.425e-05	9.422e-05	0.0001	4.499e-05	3.514e-05	3.763e-05	2.575e-05	2.415e-05	0	0.0001	0.0006	0	0	0	8.822e-05	0.0005	0	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.971	0.72444	D	0.002144	0.37138	N	0.000000	0.99996	0.52935	D	1.445	0.36358	L	-1.35	0.80035	T	-1.87	0.43717	N	0.684	0.69037	0.106	0.84285	D	0.466	0.79400	T	10	0.6697521	0.70641	D	0.713019	0.97668	D	0.815	0.94046	.	.	0.375384844437	0.37152	0.5967219760068369	0.59603	0.749429864137	0.63691	0.6520216465	0.60273	T	0.065728	0.32763	T	0.0445508	0.57639	T	0.0238607	0.71880	D	0.171034593646659	0.18650	T	0.882712	0.60367	D	0.14247678	0.32786	0.14196461	0.33790	0.14247678	0.32785	0.14196461	0.33789	-6.229	0.48157	T	.	.	0.197	0.41932	B	.	.	4.130697	0.61814	24.4	0.97304973334982425	0.33299	0.94663	0.61905	D	AEFDBCI	0.725090	0.67419	D	0.525894939136781	0.68625	5.243142	0.586108093449022	0.73942	6.053842	0.99999999991969	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	5.34	0.75982	4.728000	0.61694	11.757000	0.95541	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.199	0.89765	397	0.82902	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1980.43	44	chr12	49033739	.	G	A	1980.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.12;DP=732;ExcessHet=0;FS=4.263;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.485;SOR=1	GT:AD:DP:GQ:PL	0/1:113,77:190:99:1992,0,2880	9	0	1	0
chr12	49838825	49838825	C	T	exonic	BCDIN3D	.	nonsynonymous SNV	BCDIN3D:NM_181708:exon2:c.G425A:p.R142Q	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00813271893478	0.0032	0.00299521	0.0042	0.0011	0.0010	0	0.0024	0.0052	0.0033	0.0071	0.0041267	638	154602	rs145982210	0.0048	0.0048	0.0049	0.0047	0.0061	0.0047	0.0047	0.0057	0.0055	0.0006	0.0019	0.0021	2.519e-05	0.0022	0.0019	0.0054	0.0041	0.0061	0.0032	0.0032	0.0037	0.0028	0.0054	0.0030	0.0029	0.0049	0.0047	0.0010	0	0.0022	0.0023	0	0.0013	0.0034	0.0054	0.0014	0.0050	0.542	0.06757	T	0.572	0.08746	T	0.149	0.27956	B	0.008	0.13708	B	0.000593	0.43095	N	0.241574	1	0.08975	N	1.805	0.47535	L	0.89	0.45636	T	-0.79	0.21860	N	0.08	0.05542	-1.0480	0.14960	T	0.044	0.19070	T	10	0.004988134	0.00107	T	0.008133	0.21547	T	0.029	0.06676	.	.	0.33340067248	0.32956	0.6479157828531507	0.64726	0.150802290062	0.17009	0.33979767561	0.16408	T	0.006067	0.05507	T	-0.524699	0.00413	T	-0.523441	0.19946	T	0.00949717499429595	0.00122	T	0.780122	0.41468	T	0.15161437	0.34457	0.085644804	0.19788	0.15161437	0.34456	0.085644804	0.19788	-5.284	0.39784	T	.	.	0.101	0.17488	B	.	.	3.328324	0.45808	22.2	0.99807371135069456	0.89174	0.46601	0.27796	N	AEFDGBCI	0.056253	0.10384	N	-0.478164655997806	0.22798	1.219837	-0.393901366503099	0.25177	1.383074	0.999486479690278	0.39952	0.712529	0.81865	0	0.69481	0.67340	0	0.635938	0.45252	0	0.683535	0.66460	0	.	.	5.42	3.58	0.40133	2.039000	0.40815	4.844000	0.45312	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.803000	0.37862	0.1535:0.5965:0.1654:0.0847	4.435	0.10970	292	0.88363	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	0.001036	0.000000	0.000000	0.003497	0.000000	0.000000	0.003049	0.000000	0.05	1620.43	34	chr12	49838825	.	C	T	1620.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.15;DP=449;ExcessHet=0;FS=4.329;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.296;SOR=0.965	GT:AD:DP:GQ:PL	0/1:60,63:123:99:1632,0,1408	9	0	1	0
chr12	50887425	50887425	C	A	exonic	TMPRSS12	.	nonsynonymous SNV	TMPRSS12:NM_182559:exon5:c.C959A:p.A320E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0248991672728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.13392	T	0.125	0.35330	T	0.085	0.24868	B	0.015	0.17295	B	0.205766	0.03351	N	1.651230	1	0.18198	N	0.205	0.09354	N	-2.43	0.88689	D	-0.57	0.17210	N	0.059	0.03069	-0.6573	0.62395	T	0.412	0.75999	T	10	0.0957768	0.17131	T	0.024899	0.47884	T	0.168	0.42943	0.456	0.52102	0.469660041277	0.46594	0.4040471224969045	0.40320	0.176051985177	0.19819	0.268145501614	0.05900	T	7.51E-4	0.00354	T	-0.104056	0.35752	T	-0.387246	0.34873	T	0.128197342157364	0.15214	T	0.355964	0.08087	T	0.05873783	0.11853	0.08161378	0.18561	0.05873783	0.11853	0.08161378	0.18560	-3.375	0.14722	T	.	.	0.108	0.20508	B	.	.	0.318650	0.06933	3.477	0.50673489125479965	0.04426	0.02282	0.06579	N	AEFDI	0.045648	0.07490	N	-1.13930988621883	0.05957	0.2730109	-1.14753315561576	0.06813	0.3291874	6.69229723166238E-4	0.07575	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.26	-0.383	0.11856	-0.011000	0.12659	0.050000	0.13987	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3059:0.2972:0.3969:0.0	8.347	0.31443	266	0.89551	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1797.43	39	chr12	50887425	.	C	A	1797.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.733;DP=501;ExcessHet=0;FS=0.539;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=0.791;SOR=0.743	GT:AD:DP:GQ:PL	0/1:106,80:186:99:1809,0,2633	9	0	1	0
chr12	52493083	52493083	C	T	exonic	KRT6A	.	nonsynonymous SNV	KRT6A:NM_005554:exon1:c.G106A:p.V36I	Pachyonychia congenita 3	2	1516	4	0	0	4	0.00131752	.	.	.	738718	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.00233574219705	.	.	0.0002	0.0012	8.654e-05	0	0	0.0001	0	0.0002	3.84e-05	1	26028	rs755172711	0.0002	0.0004	0.0002	0.0002	0.0022	0.0002	0.0002	0.0018	0.0016	0.0022	0.0004	0	0.0002	3.745e-05	0.0007	0.0001	0.0005	0.0004	0.0013	0.0013	0.0012	0.0013	0.0039	0.0011	0.0011	0.0035	0.0033	0.0039	0	0.0005	0	0	0	0.0068	0.0003	0.0005	0.0004	0.098	0.30800	T	0.243	0.24193	T	0.002	0.09854	B	0.001	0.04355	B	0.055911	0.22603	N	0.369472	1	0.08975	N	1.79	0.46772	L	1.61	0.28391	T	-0.25	0.11008	N	0.089	0.06720	-1.0536	0.13413	T	0.047	0.20077	T	10	0.011922091	0.00259	T	0.002336	0.04507	T	0.011	0.01250	.	.	0.198222871337	0.19423	0.05692208896787832	0.05633	1.38622255292	0.84890	0.471773892641	0.34924	T	0.124991	0.45040	T	-0.31987	0.06908	T	-0.697248	0.05978	T	0.00629619767349653	0.00070	T	0.313969	0.06176	T	0.07826603	0.17812	0.08931973	0.20880	0.07826603	0.17811	0.08931973	0.20879	-5.827	0.44809	T	.	.	0.116	0.23325	B	.	.	1.248130	0.16447	12.54	0.96437932161838147	0.29817	0.05376	0.11239	N	AEFBHCI	0.081371	0.16465	N	-1.00131367309578	0.08577	0.4026576	-1.0193531498141	0.09360	0.4652128	0.999992957680926	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.24	-1.38	0.08554	-0.274000	0.08569	.	.	-0.846000	0.02755	0.000000	0.06391	0.000000	0.08366	0.529000	0.29684	0.2356:0.3727:0.115:0.2767	0.904	0.01201	769	0.49307	Keratin type II head	.	.	.	.	.	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	0.000514	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	575.43	36	chr12	52493083	.	C	T	575.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.84;DP=395;ExcessHet=0;FS=19.67;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=46.46;MQRankSum=-4.091;QD=7.67;ReadPosRankSum=0.053;SOR=2.627	GT:AD:DP:GQ:PL	0/1:54,21:75:99:587,0,1351	9	0	1	0
chr12	53118915	53118915	G	A	exonic	SOAT2	.	nonsynonymous SNV	SOAT2:NM_003578:exon9:c.G889A:p.V297M	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.690	0.45778586049	.	.	0.0003	9.61e-05	8.637e-05	0	0	7.492e-05	0.0011	0.0019	0.0002523	39	154602	rs775199271	0.0002	0.0002	0.0001	0.0002	0.0029	0.0002	0.0002	0.0019	0.0018	2.987e-05	2.236e-05	0	0	0	0.0029	3.597e-05	0.0002	0.0022	7.883e-05	7.875e-05	7.712e-05	8.061e-05	0.0008	4.496e-05	3.511e-05	0.0003	0.0002	2.408e-05	0	0	0	0	0	0	0.0001	0	0.0008	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000023	0.55875	D	0.068206	1	0.81001	D	3.55	0.93268	H	-0.68	0.72568	T	-2.81	0.59389	D	0.813	0.80866	0.342	0.88213	D	0.598	0.85661	D	10	0.5856057	0.66093	D	0.457786	0.94458	D	0.690	0.88726	.	.	0.716011749808	0.71351	0.6813090266128822	0.68069	0.586344282559	0.54236	0.635893702507	0.57981	T	0.792009	0.94606	D	-0.078842	0.39902	T	0.0949581	0.76574	D	0.433242976665497	0.30180	T	0.971703	0.89738	D	0.894658	0.90911	0.82116365	0.89613	0.894658	0.90912	0.82116365	0.89614	-10.365	0.76068	D	.	.	0.684	0.72307	P	.	.	5.115967	0.85548	28.6	0.99892731384314359	0.96666	0.99262	0.93620	D	AEFDGBI	0.910411	0.86830	D	0.917976451252181	0.92612	11.52453	0.852807249859208	0.93178	11.87454	0.999999928839243	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.633917	0.49826	0	.	.	4.87	4.87	0.62877	8.848000	0.91806	11.684000	0.94262	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.308	0.87089	784	0.47045	.	.	.	.	.	.	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	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1330.43	36	chr12	53118915	.	G	A	1330.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.283;DP=428;ExcessHet=0;FS=0.706;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.847;SOR=0.602	GT:AD:DP:GQ:PL	0/1:57,54:111:99:1342,0,1410	9	0	1	0
chr12	53973795	53973795	C	A	exonic	HOXC11	.	nonsynonymous SNV	HOXC11:NM_014212:exon1:c.C554A:p.P185Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.20393996204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.943e-07	6.841e-07	1.379e-06	0	3.081e-05	0	0	.	.	3.081e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.29688	T	0.115	0.36630	T	0.001	0.07471	B	0.001	0.04355	B	0.000511	0.43753	D	0.197709	0.891747	0.35968	D	0	0.06538	N	-2.95	0.91903	D	-1.67	0.42001	N	0.114	0.35194	-0.1376	0.79224	T	0.491	0.80673	T	10	0.17142197	0.31859	T	0.20394	0.86903	D	0.074	0.21613	0.325	0.30711	0.912192421923	0.91131	0.46548259915495976	0.46467	.	.	0.780344367027	0.78979	T	0.036082	0.30084	T	-0.00928102	0.50366	T	-0.251108	0.49707	T	0.402309520924846	0.29029	T	0.556144	0.20452	T	0.10628061	0.25129	0.20598917	0.44792	0.10628061	0.25129	0.20598917	0.44791	-5.209	0.39033	T	.	.	0.072	0.10159	B	.;.	.;.	2.905113	0.38521	20.8	0.92200239905065018	0.21570	0.70686	0.34694	D	ALL	0.174200	0.30132	N	-0.263367602100421	0.30573	1.706008	-0.0766032370036616	0.36361	2.115014	0.9999999999998	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.21	3.24	0.36257	4.049000	0.57110	2.596000	0.33495	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.2366:0.7634:0.0:0.0	11.385	0.49019	211	0.91797	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2491.14	38	chr12	53973795	.	C	A	2491.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.1;DP=531;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0.545;SOR=0.678	GT:AD:DP:GQ:PL	0/1:48,51:99:99:1308,0,1015	8	0	2	0
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0237397125168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345501624	2.755e-06	2.742e-06	1.372e-06	4.151e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.000478	0.44119	D	0.088981	0.999998	0.58761	D	1.465	0.36909	L	-0.52	0.70717	T	0.23	0.04613	N	0.196	0.21580	-0.5516	0.66726	T	0.368	0.72788	T	10	0.3502603	0.51901	T	0.02374	0.46713	T	0.403	0.71636	0.571	0.69431	0.809007091605	0.80721	0.2760080514280935	0.27513	0.162976829088	0.18394	0.490764260292	0.37544	T	0.005184	0.04625	T	0.118655	0.66237	D	-0.0673364	0.65815	T	0.74129194021225	0.42806	D	0.725127	0.33902	T	0.11525833	0.27201	0.15893412	0.37092	0.11525833	0.27201	0.15893412	0.37091	-4.201	0.26766	T	.	.	0.081	0.08224	B	.;.	.;.	3.791423	0.54572	23.5	0.99915949351705269	0.98379	0.88390	0.48296	D	AEFBI	0.518746	0.54431	D	0.36141034936137	0.59345	4.113099	0.384589246084373	0.60614	4.250998	0.999999998215978	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	1.850000	0.38968	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.201	0.81895	686	0.59327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	678.61	78	chr12	54363394	.	G	A	678.61	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-3.666;DP=970;ExcessHet=2.8389;FS=217.393;InbreedingCoeff=-0.4287;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=1.14;SOR=9.401	GT:AD:DP:GQ:PL	0/1:76,40:116:99:257,0,1380	3	0	5	2
chr12	54962733	54962733	G	A	exonic	TESPA1	.	nonsynonymous SNV	TESPA1:NM_001351150:exon6:c.C538T:p.P180S,TESPA1:NM_001351148:exon7:c.C751T:p.P251S,TESPA1:NM_001351151:exon7:c.C406T:p.P136S,TESPA1:NM_001351152:exon7:c.C406T:p.P136S,TESPA1:NM_001351153:exon7:c.C406T:p.P136S,TESPA1:NM_001351154:exon7:c.C406T:p.P136S,TESPA1:NM_001351155:exon7:c.C406T:p.P136S,TESPA1:NM_014796:exon7:c.C751T:p.P251S,TESPA1:NM_001261844:exon8:c.C751T:p.P251S,TESPA1:NM_001098815:exon9:c.C1165T:p.P389S,TESPA1:NM_001136030:exon9:c.C1165T:p.P389S,TESPA1:NM_001351149:exon10:c.C1165T:p.P389S	.	435	1023	60	4	0	68	0.0321665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0033	0.00479233	0.0060	0.0008	0.0034	0.0001	0.0006	0.0064	0.0056	0.0143	0.0054204	838	154602	rs79969168	0.0050	0.0050	0.0047	0.0054	0.0206	0.0049	0.0049	0.0176	0.0165	0.0005	0.0056	0.0219	5.038e-05	0.0005	0.0206	0.0043	0.0062	0.0139	0.0041	0.0041	0.0040	0.0042	0.0130	0.0038	0.0037	0.0105	0.0095	0.0008	0	0.0088	0.0205	0.0002	0.0002	0.0514	0.0042	0.0076	0.0130	0.108	0.29420	T	0.115	0.39040	T	0.009	0.15093	B	0.007	0.12992	B	0.884550	0.08731	N	0.941133	1	0.08975	N	1.3	0.32576	L	1.01	0.41058	T	-0.43	0.14390	N	0.089	0.08786	-1.0110	0.26604	T	0.047	0.20195	T	10	0.005149156	0.00112	T	.	.	.	0.057	0.16321	.	.	0.134241683229	0.13084	0.11741497963002354	0.11669	0.156741707563	0.17697	0.22092320025	0.01364	T	0.00258	0.01974	T	-0.646041	0.00077	T	-0.689738	0.06404	T	0.00151438580155197	0.00015	T	0.512349	0.16405	T	0.017450266	0.00273	0.025835352	0.00643	0.017450266	0.00273	0.025835352	0.00643	-3.329	0.14113	T	.	.	0.081	0.11893	B	.;.;.;.;.	.;.;.;.;.	-0.185425	0.03167	0.516	0.71880267870492953	0.09780	0.02568	0.07109	N	AEFBI	0.073802	0.14774	N	-0.917725297604605	0.10427	0.498243	-0.956001895449828	0.10783	0.5453844	0.126746297919489	0.17006	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.37	1.32	0.20897	-0.500000	0.06487	0.844000	0.22071	0.676000	0.76740	0.000000	0.06391	0.031000	0.21272	0.012000	0.09680	0.2879:0.0:0.4565:0.2556	2.444	0.04227	783	0.47268	.;.;.;.;.	.	.	.	.	.	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	0.005051	0.016304	0.011696	0.000000	0.017241	0.027439	0.026515	0.15	5184.45	33	chr12	54962733	.	G	A	5184.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.22;DP=678;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.515;SOR=0.658	GT:AD:DP:GQ:PL	0/1:74,69:143:99:1850,0,1817	7	0	3	0
chr12	55321270	55321270	T	C	exonic	OR6C1	.	nonsynonymous SNV	OR6C1:NM_001005182:exon1:c.T671C:p.L224S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0011256731824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.375e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.003	0.76473	D	0.411	0.35101	B	0.483	0.47159	P	0.006444	0.32025	N	0.141490	1	0.08975	N	3.08	0.87267	M	8.15	0.00286	T	-5.55	0.86222	D	0.576	0.59816	-1.1202	0.02319	T	0.002	0.00615	T	10	0.25606167	0.43006	T	0.001126	0.01360	T	0.104	0.29647	0.615	0.74884	0.364141725642	0.36032	0.0926368537174343	0.09195	0.0274412082615	0.02802	0.192546278238	0.00273	T	0.009952	0.09021	T	-0.100664	0.36314	T	-0.382374	0.35444	T	0.948995292186737	0.63016	D	0.740526	0.35940	T	0.5920324	0.72261	0.5857374	0.75976	0.5920324	0.72262	0.5857374	0.75977	-11.515	0.82409	D	.	.	0.242	0.47611	B	.;.	.;.	3.225384	0.43964	21.8	0.99164172853796217	0.54184	0.26845	0.23110	N	AEFBI	0.107231	0.21371	N	-0.0630198612127827	0.39022	2.294674	-0.178827732516569	0.32317	1.837351	0.0100258226496653	0.11953	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.62	4.62	0.56946	2.122000	0.41610	.	.	0.641000	0.52212	0.018000	0.19461	0.913000	0.28170	0.930000	0.46718	0.0:0.0:0.0:1.0	13.843	0.62947	862	0.33134	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	.	.	.	.	.	.	.	.	0.05	2583.43	161	chr12	55321270	.	T	C	2583.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.691;DP=1549;ExcessHet=0;FS=1.777;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.577;SOR=0.79	GT:AD:DP:GQ:PL	0/1:85,106:191:99:2595,0,3065	9	0	1	0
chr12	55426420	55426420	C	G	exonic	OR6C76	.	nonsynonymous SNV	OR6C76:NM_001005183:exon1:c.C167G:p.P56R	.	434	1082	6	0	0	6	0.00276498	.	.	.	2735439	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.196	0.0132700389094	.	.	0.0001	9.615e-05	0	0	0	0.0002	0	0.0001	0.00011	17	154602	rs778131455	7.526e-05	7.524e-05	5.582e-05	9.49e-05	0.0035	6.383e-05	5.939e-05	0.0023	0.0019	0.0001	0	0	0	1.873e-05	0.0035	5.576e-05	0.0002	0.0001	1.314e-05	1.312e-05	2.571e-05	0	1.471e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.471e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.968	0.71741	D	0.000692	0.42383	U	0.000000	0.952997	0.37810	D	3.965	0.96539	H	4.49	0.02049	T	-8.03	0.96581	D	0.728	0.72925	-0.7422	0.58339	T	0.064	0.26349	T	10	0.80940235	0.80241	D	0.01327	0.32542	T	0.196	0.47777	.	.	0.204665344411	0.20097	0.40013164558105546	0.39928	0.265818566732	0.29134	0.222269922495	0.01445	T	0.013642	0.11764	T	-0.246786	0.14496	T	-0.300119	0.44712	T	0.967052042484283	0.67783	D	0.850515	0.53399	D	0.8880923	0.90344	0.8630441	0.92388	0.8880923	0.90346	0.8630441	0.92388	-10.876	0.78973	D	.	.	0.191	0.40952	B	.	.	2.739929	0.35886	20.1	0.99795603440528824	0.88106	0.97970	0.78525	D	AEFI	0.510336	0.53943	D	0.855644782669748	0.89428	9.967367	0.68748287372722	0.81429	7.524262	0.341869315816874	0.19592	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.35	4.35	0.51454	5.481000	0.66549	.	.	0.520000	0.23804	0.984000	0.35821	0.138000	0.23065	0.855000	0.40485	0.0:1.0:0.0:0.0	17.015	0.86290	707	0.57054	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	0.002518	0.000000	0.001359	0.005848	0.000000	0.008621	0.003049	0.000000	0.1	3553.14	42	chr12	55426420	.	C	G	3553.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.92;DP=685;ExcessHet=0.2348;FS=4.751;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-0.971;SOR=0.737	GT:AD:DP:GQ:PL	0/1:100,69:169:99:1551,0,2582	8	0	2	0
chr12	57002801	57002801	G	A	exonic	ZBTB39	.	nonsynonymous SNV	ZBTB39:NM_014830:exon2:c.C2117T:p.A706V	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.00933289930028	0.0008	0.000998403	0.0007	0.0015	0.0006	0.0001	0	0.0008	0.0011	0.0004	0.0006662	103	154602	rs116414697	0.0004	0.0004	0.0004	0.0004	0.0104	0.0004	0.0004	0.0083	0.0075	0.0019	0.0004	0.0001	2.519e-05	0	0.0104	0.0003	0.0010	0.0003	0.0008	0.0008	0.0009	0.0007	0.0018	0.0007	0.0006	0.0015	0.0013	0.0018	0	0.0006	0	0	0	0.0068	0.0005	0.0005	0.0002	0.17	0.22833	T	0.178	0.29639	T	0.991	0.64070	D	0.403	0.44588	B	0.006645	0.31890	N	0.260319	0.984849	0.40201	D	0.345	0.11182	N	3.08	0.08460	T	-0.11	0.08653	N	0.071	0.04426	-0.8950	0.48483	T	0.016	0.06377	T	10	0.008271784	0.00188	T	0.009333	0.24483	T	0.156	0.40720	.	.	0.514811571519	0.51123	0.1858548726312891	0.18503	0.171660082868	0.19330	0.543152630329	0.44891	T	0.013812	0.11878	T	-0.460822	0.00972	T	-0.441979	0.28586	T	0.0425485443005567	0.04156	T	0.647535	0.25853	T	0.032245614	0.03213	0.053874213	0.09157	0.032245614	0.03212	0.053874213	0.09157	-4.067	0.24802	T	.	.	0.121	0.25166	B	.	.	3.486579	0.48718	22.7	0.99710074616565936	0.81283	0.99293	0.94067	D	AEFDBI	0.803577	0.72868	D	0.375915727508221	0.60120	4.197504	0.494142150245018	0.67602	5.105908	0.99999999999537	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	6.749000	0.74678	7.623000	0.62394	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	16.761	0.85372	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	0.012097	0.000000	0.021739	0.002924	0.000000	0.051724	0.000000	0.003788	0.15	3496.45	37	chr12	57002801	.	G	A	3496.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.36;DP=576;ExcessHet=0.7463;FS=1.936;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.357;SOR=0.836	GT:AD:DP:GQ:PL	0/1:69,46:115:99:1047,0,1632	7	0	3	0
chr12	57477460	57477460	G	A	exonic	ARHGAP9	.	nonsynonymous SNV	ARHGAP9:NM_001080156:exon2:c.C203T:p.T68M,ARHGAP9:NM_001319852:exon2:c.C203T:p.T68M,ARHGAP9:NM_001367422:exon2:c.C203T:p.T68M,ARHGAP9:NM_001367423:exon2:c.C203T:p.T68M,ARHGAP9:NM_001367424:exon2:c.C203T:p.T68M,ARHGAP9:NM_001367425:exon2:c.C203T:p.T68M,ARHGAP9:NM_001367426:exon2:c.C203T:p.T68M,ARHGAP9:NM_001080157:exon3:c.C755T:p.T252M,ARHGAP9:NM_032496:exon4:c.C755T:p.T252M,ARHGAP9:NM_001319850:exon7:c.C755T:p.T252M	.	406	1114	2	0	0	2	0.000896861	0.0030	0.038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00493737967595	0.0002	0.000199681	0.0002	0	0	0.0002	0.0002	0.0002	0	0.0006	0.0001682	26	154602	rs147287939	0.0001	0.0001	0.0001	0.0001	0.0006	0.0001	0.0001	0.0005	0.0004	0	4.475e-05	0	0.0001	1.872e-05	0.0002	0.0001	0.0002	0.0006	0.0001	0.0001	8.993e-05	0.0001	0.0008	6.507e-05	5.319e-05	0.0003	0.0002	2.406e-05	0	0	0	0.0006	0	0	0.0001	0	0.0008	0.36	0.30800	T	0.16	0.33554	T	0.005	0.12996	B	0.006	0.12133	B	0.984731	0.07863	N	1.008660	1	0.08975	N	0.55	0.14455	N	3.05	0.48460	T	-1.74	0.46842	N	0.122	0.13055	-1.0587	0.12083	T	0.070	0.28412	T	10	0.015371174	0.00323	T	0.004937	0.12442	T	0.026	0.05648	.	.	0.158396225186	0.15383	0.23349251639297058	0.23264	0.0489390980061	0.05346	0.27607306838	0.06951	T	0.027078	0.30045	T	-0.548276	0.00299	T	-0.667853	0.07746	T	0.0247795224876703	0.01244	T	0.615039	0.24876	T	.	.	.	.	.	.	.	.	-5.458	0.41521	T	.	.	0.069	0.07507	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-0.012617	0.04196	1.020	0.85849102307018188	0.16151	0.04096	0.09561	N	AEFDGBCI	0.179389	0.30668	N	-1.46824141481479	0.02077	0.09136241	-1.55097695603573	0.01969	0.0899311	0.999996862658159	0.74766	0.582742	0.33608	0	0.52208	0.09955	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	3.29	-2.65	0.05739	-0.857000	0.04394	-1.984000	0.04391	-1.534000	0.00989	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.4042:0.0:0.4589:0.1369	5.147	0.14318	325	0.86759	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.006098	0.000000	0.05	852.43	40	chr12	57477460	.	G	A	852.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=399;ExcessHet=0;FS=4.801;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.54;SOR=1.051	GT:AD:DP:GQ:PL	0/1:33,35:68:99:864,0,670	9	0	1	0
chr12	59775230	59775230	G	A	exonic	SLC16A7	.	nonsynonymous SNV	SLC16A7:NM_004731:exon4:c.G935A:p.R312Q,SLC16A7:NM_001270622:exon5:c.G935A:p.R312Q,SLC16A7:NM_001270623:exon5:c.G935A:p.R312Q	.	430	1090	2	0	0	2	0.00091659	.	.	.	3477229	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.614	0.082681343544	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs752116486	5.473e-06	5.472e-06	4.084e-06	6.876e-06	3.478e-05	2.35e-06	1.7e-06	9.24e-06	4.56e-06	2.987e-05	0	0	0	1.872e-05	0	8.993e-07	3.312e-05	3.478e-05	1.315e-05	1.313e-05	1.285e-05	1.345e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.107	0.37730	T	0.998	0.73220	D	0.938	0.67350	D	0.005972	0.32369	N	0.261657	0.965753	0.38487	D	3.145	0.88303	M	-1.77	0.83660	D	-2.38	0.52938	N	0.516	0.54671	0.344	0.88241	D	0.661	0.88212	D	9	0.6193577	0.67888	D	0.082681	0.73953	D	0.614	0.84932	0.688	0.82558	0.958256472873	0.95780	0.4520497812980704	0.45122	0.335772900916	0.35578	0.342075407505	0.16748	T	0.496586	0.81882	T	-0.028833	0.47585	T	-0.0976651	0.63578	T	0.953375160694122	0.64011	D	0.937306	0.77406	D	0.2262507	0.45302	0.09709591	0.23096	0.2262507	0.45302	0.09709591	0.23096	-8.805	0.66433	D	.	.	0.138	0.34689	B	.;.;.;.;.	.;.;.;.;.	5.033443	0.83731	28.1	0.99959891180869842	0.99994	0.87859	0.47545	D	AEFI	0.166305	0.29288	N	0.689857511386648	0.78968	6.979559	0.678646072335746	0.80760	7.371204	0.011897459155237	0.12251	0.638212	0.43195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.76	5.76	0.90726	3.745000	0.54838	7.692000	0.65839	0.674000	0.70861	0.998000	0.41325	1.000000	0.68203	0.958000	0.51230	0.1093:0.0:0.8907:0.0	11.356	0.48857	892	0.26670	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3226.43	34	chr12	59775230	.	G	A	3226.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=514;ExcessHet=0;FS=1.091;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-0.597;SOR=0.617	GT:AD:DP:GQ:PL	0/1:88,115:203:99:3238,0,2170	9	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	.	.	.	.	.	.	.	.	0.25	279.11	50	chr12	70329450	.	T	C	279.11	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-2.318;DP=612;ExcessHet=0.2348;FS=251.157;InbreedingCoeff=-0.3356;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=-0.042;SOR=6.931	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,19:104:99:0|1:70329450_T_C:197,0,2903:70329450	2	0	2	6
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	.	.	.	.	.	.	.	.	0.25	283.04	50	chr12	70329451	.	G	A	283.04	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-2.818;DP=605;ExcessHet=0.2348;FS=258.281;InbreedingCoeff=-0.3333;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=0.036;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,19:105:99:0|1:70329450_T_C:194,0,2924:70329450	2	0	2	6
chr12	70635944	70635944	G	A	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001109754:exon2:c.C178T:p.L60F,PTPRB:NM_001330204:exon2:c.C178T:p.L60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0214511850333	8e-05	.	8.491e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs372428385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.171	0.91255	T	0.141	0.47097	T	0.069	0.33860	B	0.063	0.32896	B	.	.	.	.	0.949216	0.26544	N	.	.	.	0.89	0.45636	T	-0.76	0.25770	N	0.274	0.33469	-1.0714	0.09108	T	0.085	0.33099	T	9	0.1482369	0.28075	T	0.021451	0.44220	T	0.034	0.08419	.	.	0.176862962021	0.17281	0.6354880301755313	0.63482	0.53492471946	0.50878	0.479680240154	0.36012	T	0.059314	0.33423	T	-0.220665	0.17902	T	-0.554746	0.16873	T	0.932623505592346	0.59881	D	0.69863	0.31478	T	.	.	.	.	.	.	.	.	-5.511	0.41971	T	.	.	0.473	0.64929	A	.;.;.;.	.;.;.;.	3.602507	0.50895	23.0	0.99859623691552357	0.93820	0.85685	0.44845	D	AEFDBHCI	0.862088	0.78030	D	-0.0241969775281813	0.40761	2.42629	0.155470530023144	0.47434	2.973584	0.999999999861969	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.00508	0.00061	3	.	.	6.04	5.15	0.70287	4.423000	0.59610	6.674000	0.56288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0711:0.0:0.9289:0.0	14.440	0.66887	670	0.60992	.;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	339.01	50	chr12	70635944	.	G	A	339.01	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-3.055;DP=680;ExcessHet=1.5895;FS=383.437;InbreedingCoeff=-0.3405;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=1.16;ReadPosRankSum=0.752;SOR=9.735	GT:AD:DP:GQ:PL	0/1:53,26:90:99:137,0,1020	4	0	4	2
chr12	94149654	94149654	G	A	exonic	PLXNC1	.	nonsynonymous SNV	PLXNC1:NM_005761:exon1:c.G683A:p.G228D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.0905338337062	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362967623	2.065e-06	2.052e-06	1.369e-06	2.77e-06	0.0003	5.5e-07	1.5e-07	6.105e-05	2.526e-05	0	0	0	0	0	0.0003	9.024e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.19854	T	0.422	0.14034	T	0.007	0.14184	B	0.003	0.08700	B	0.566135	0.05452	N	1.235190	1	0.08975	N	0.695	0.17993	N	3.69	0.04114	T	-1.05	0.27463	N	0.209	0.23253	-0.9230	0.45141	T	0.015	0.06234	T	10	0.08215159	0.13527	T	0.090534	0.75537	D	0.093	0.26882	0.475	0.55182	0.401208672323	0.39738	0.7065292715869159	0.70594	1.70097506575	0.90296	0.45965591073	0.33263	T	0.029	0.20880	T	-0.215509	0.18610	T	-0.54734	0.17582	T	0.0394030399620533	0.03583	T	0.708229	0.31875	T	0.16172756	0.36202	0.15889303	0.37083	0.16172756	0.36201	0.15889303	0.37082	-3.705	0.19392	T	.	.	0.083	0.09191	B	.	.	2.114119	0.26909	17.28	0.94018786527330744	0.24124	0.02526	0.07033	N	AEFDGBCIJ	0.078782	0.15902	N	-0.653890755460574	0.17348	0.8918606	-0.669889955841798	0.17715	0.9431993	0.999999999457342	0.74766	0.59774	0.34471	0	0.52208	0.09955	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.04	0.868	0.18228	0.513000	0.22476	2.102000	0.30609	0.575000	0.29119	0.000000	0.06391	0.067000	0.22148	0.997000	0.79791	0.1303:0.3201:0.2247:0.325	1.379	0.02092	941	0.13089	Sema domain|Sema 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	0.001014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003106	0.000000	0.05	1936.43	33	chr12	94149654	.	G	A	1936.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.952;DP=464;ExcessHet=0;FS=1.331;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.708;SOR=0.708	GT:AD:DP:GQ:PL	0/1:60,83:143:99:1948,0,1426	9	0	1	0
chr12	100083041	100083041	C	A	exonic	UHRF1BP1L	.	nonsynonymous SNV	UHRF1BP1L:NM_001006947:exon11:c.G1382T:p.R461I,UHRF1BP1L:NM_015054:exon11:c.G1382T:p.R461I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.530	0.0347516326005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0.81001	D	2.56	0.74772	M	1.76	0.52187	T	-7.51	0.95665	D	0.947	0.96187	-0.3511	0.73521	T	0.354	0.71728	T	10	0.8895881	0.88297	D	0.034752	0.55884	D	0.530	0.80188	0.781	0.90541	0.52029155784	0.51673	0.6947603114269868	0.69417	0.752499304445	0.63842	0.639207243919	0.58451	T	0.366428	0.79749	T	0.310413	0.83777	D	0.208111	0.83566	D	0.99787974357605	0.92644	D	0.990001	0.96904	D	0.8590774	0.88015	0.87103266	0.92937	0.8590774	0.88017	0.87103266	0.92937	-13.334	0.90692	D	.	.	0.95	0.87996	P	.;.;.;.;.;.	.;.;.;.;.;.	4.847646	0.79201	27.1	0.98691458861582226	0.44766	0.98971	0.89357	D	AEFBI	0.729551	0.67722	D	0.886477090721221	0.91082	10.70654	0.868941898638003	0.94072	12.48445	0.999998505759844	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.93	5.93	0.95888	6.556000	0.73830	7.633000	0.62825	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.349	0.98808	817	0.41665	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	185.43	41	chr12	100083041	.	C	A	185.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.513;DP=544;ExcessHet=0;FS=175.793;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=0.541;SOR=7.978	GT:AD:DP:GQ:PL	0/1:114,32:146:99:197,0,2628	9	0	1	0
chr12	103705720	103705720	C	A	exonic	STAB2	.	nonsynonymous SNV	STAB2:NM_017564:exon37:c.C3989A:p.T1330N	.	7	1487	28	0	0	28	0.00932712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.0509953503137	0.0002	0.000599042	0.0008	0	0	0	0	0.0004	0.0011	0.0044	0.0006856	106	154602	rs201821239	0.0004	0.0004	0.0003	0.0006	0.0064	0.0004	0.0004	0.0048	0.0042	2.987e-05	0.0005	0.0016	0	0	0.0064	9.353e-05	0.0007	0.0045	0.0005	0.0005	0.0002	0.0007	0.0052	0.0004	0.0003	0.0036	0.0031	2.406e-05	0	0.0012	0.0006	0	0	0.0068	0.0003	0.0005	0.0052	0.027	0.46513	D	0.003	0.76473	D	1.0	0.90584	D	0.997	0.86255	D	0.000010	0.62929	D	0.110237	0.882891	0.35788	D	1.765	0.45800	L	-2.06	0.85875	D	-2.27	0.50666	N	0.357	0.39861	0.503	0.90587	D	0.708	0.89977	D	10	0.01371336	0.00290	T	0.050995	0.64476	D	0.361	0.68141	.	.	0.803979797774	0.80215	0.6817167318592029	0.68110	0.187205896589	0.21033	0.544834434986	0.45129	T	0.187926	0.54168	T	-0.294554	0.09182	T	-0.196027	0.55023	T	0.104326851224289	0.12825	T	0.727127	0.34152	T	0.3371174	0.56049	0.44186336	0.67456	0.3371174	0.56049	0.44186336	0.67457	-6.762	0.52276	T	.	.	0.142	0.31253	B	.	.	1.806640	0.22960	15.83	0.9898654450147979	0.49841	0.83466	0.42581	D	AEFBI	0.451692	0.50556	N	0.263445257592735	0.54307	3.596602	0.172457429291924	0.48344	3.051557	0.860710096106632	0.25219	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.76	4.85	0.62375	1.246000	0.32405	1.404000	0.26222	0.599000	0.40250	0.748000	0.29111	0.779000	0.26763	0.251000	0.23288	0.0:0.8702:0.1297:0.0	16.695	0.85192	869	0.31655	.	.	.	.	.	.	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	0.002518	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.003788	0.05	682.43	38	chr12	103705720	.	C	A	682.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.75;DP=393;ExcessHet=0;FS=1.959;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=0.797;SOR=0.972	GT:AD:DP:GQ:PL	0/1:52,28:80:99:694,0,1245	9	0	1	0
chr12	108195972	108195972	G	A	exonic	WSCD2	.	nonsynonymous SNV	WSCD2:NM_014653:exon2:c.G140A:p.G47E,WSCD2:NM_001304447:exon3:c.G140A:p.G47E	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0074533342012	.	.	4.989e-05	0	0	0	0	1.506e-05	0	0.0003	3.88e-05	6	154602	rs753595241	2.736e-05	2.736e-05	1.497e-05	3.988e-05	0.0004	2.062e-05	1.816e-05	0.0003	0.0002	0	0	0	0	0	0.0002	4.496e-06	1.656e-05	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02000	T	1.0	0.02348	T	0.0	0.02946	B	0.0	0.01387	B	0.117106	0.19166	N	0.557262	1	0.08975	N	-0.205	0.04094	N	1.55	0.29866	T	-0.44	0.14588	N	0.054	0.11054	-0.9909	0.32373	T	0.028	0.12147	T	10	0.031251162	0.01258	T	0.007453	0.19765	T	0.091	0.26358	0.297	0.26202	0.0401082797425	0.02173	0.3442808329261468	0.34342	0.486009333891	0.47472	0.398763477802	0.24896	T	0.006501	0.05931	T	-0.534877	0.00359	T	-0.705767	0.05516	T	0.0200351499881445	0.00704	T	0.350365	0.07800	T	0.033230446	0.03500	0.04860362	0.07254	0.033230446	0.03499	0.04860362	0.07254	-4.031	0.24326	T	.	.	0.062	0.01309	B	.;.;.	.;.;.	1.213944	0.16070	12.30	0.38322929750288709	0.02578	0.35640	0.25349	N	AEFDBI	0.114123	0.22491	N	-1.18532919072679	0.05221	0.2375213	-1.08155819237223	0.08063	0.3948533	0.0954067517313544	0.16226	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.74	0.626	0.16843	3.426000	0.52545	4.650000	0.44192	-0.102000	0.15922	0.997000	0.40164	1.000000	0.68203	0.076000	0.17014	0.5068:0.171:0.3222:0.0	4.362	0.10643	889	0.27310	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2165.43	36	chr12	108195972	.	G	A	2165.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.98;DP=488;ExcessHet=0;FS=6.717;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.56;SOR=0.366	GT:AD:DP:GQ:PL	0/1:83,84:167:99:2177,0,2030	9	0	1	0
chr12	109439701	109439701	C	T	exonic	MYO1H	.	nonsynonymous SNV	MYO1H:NM_001101421:exon23:c.C2317T:p.R773W	.	426	1091	5	0	0	5	0.00228624	.	.	.	724876	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.689	.	0.0003	0.0153754	0.0072	0.0003	0.0006	0.0626	0	0.0002	0.0047	0.0183	0.0063712	985	154602	rs74528155	0.0029	0.0029	0.0026	0.0031	0.0546	0.0028	0.0028	0.0527	0.0519	0.0002	0.0003	3.827e-05	0.0546	3.746e-05	0.0010	9.265e-05	0.0084	0.0159	0.0028	0.0028	0.0025	0.0031	0.0529	0.0026	0.0025	0.0478	0.0458	0.0002	0	0.0019	0	0.0529	0	0	8.82e-05	0.0099	0.0186	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.577	0.60410	0.221	0.86271	D	0.525	0.82297	D	9	0.006072074	0.00136	T	.	.	.	0.689	0.88679	.	.	0.911773092726	0.91089	0.6795882394594506	0.67897	0.429199578259	0.43218	0.46223205328	0.33616	T	.	.	.	-0.00618123	0.50799	T	0.264681	0.86313	D	0.085568498417647	0.10684	T	0.89721	0.64041	D	.	.	.	.	.	.	.	.	-9.032	0.67903	D	.	.	0.193	0.41357	B	.;.	.;.	4.710942	0.75686	26.4	0.99927969351599377	0.99222	0.76919	0.37765	D	AEFBI	0.576271	0.57833	D	0.539496970276355	0.69442	5.357864	0.477379514286417	0.66495	4.95938	0.998807468228945	0.37711	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.43	3.48	0.38946	2.316000	0.43421	0.477000	0.18769	0.599000	0.40250	1.000000	0.71638	0.993000	0.31925	0.996000	0.76049	0.3299:0.585:0.0:0.0851	6.338	0.20513	787	0.46738	.;.	.	.	.	.	rs74528155	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	0.003021	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1964.43	35	chr12	109439701	.	C	T	1964.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.648;DP=445;ExcessHet=0;FS=2.255;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.559;SOR=0.512	GT:AD:DP:GQ:PL	0/1:52,80:132:99:1976,0,1199	9	0	1	0
chr12	110628923	110628923	G	A	exonic	TCTN1	.	nonsynonymous SNV	TCTN1:NM_001319682:exon4:c.G461A:p.S154N	Joubert syndrome 13, Autosomal recessive	.	.	.	.	.	.	.	0.9819	0.712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0426171191547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	3.42e-06	5.448e-06	1.376e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	0.06109	T	0.302	0.32608	B	0.121	0.32300	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.15333271	0.28945	T	0.042617	0.60557	D	.	.	.	.	0.614370161906	0.61125	.	.	.	.	.	.	.	.	.	.	-0.33182	0.05975	T	-0.714413	0.05070	T	.	.	.	0.284972	0.05045	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27613	B	.	.	2.472231	0.31864	18.87	0.68165143318971155	0.08575	0.15893	0.19132	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.828579610106998	0.24652	0.106106	0.02776	0	0.097471	0.02872	0	0.083675	0.02720	0	0.109871	0.03346	0	.	.	5.28	1.32	0.20897	1.425000	0.34467	6.317000	0.55438	0.672000	0.70159	0.932000	0.32345	1.000000	0.68203	0.839000	0.39591	0.34:0.1612:0.4988:0.0	4.316	0.10433	186	0.92733	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	296.11	94	chr12	110628923	.	G	A	296.11	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.906;DP=1262;ExcessHet=2.8389;FS=190.894;InbreedingCoeff=-0.329;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=0.048;SOR=10.732	GT:AD:DP:GQ:PL	0/1:117,52:169:99:118,0,1740	5	0	5	0
chr12	113195640	113195640	C	T	exonic	IQCD	.	nonsynonymous SNV	IQCD:NM_138451:exon3:c.G979A:p.G327S,IQCD:NM_001330452:exon5:c.G1285A:p.G429S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0056607326779	0.0003	0.000399361	0.0002	9.612e-05	8.64e-05	0	0	0.0001	0.0011	0.0005	0.0001488	23	154602	rs117969623	0.0001	0.0001	0.0001	0.0001	0.0021	0.0001	0.0001	0.0012	0.0009	0	2.236e-05	0.0002	0	0	0.0021	0.0001	0.0003	0.0005	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	8.761e-05	0.0002	0.0001	4.848e-05	0	0.0004	0	0	0	0	0.0002	0	0.0002	0.0	0.91255	D	0.267	0.22561	T	0.484	0.36838	P	0.241	0.38645	B	.	.	.	.	0.996295	0.43123	D	.	.	.	0.6	0.53943	T	-2.84	0.59873	D	0.187	0.20395	-1.0972	0.04447	T	0.091	0.34928	T	8	0.040820062	0.02683	T	0.005661	0.14651	T	0.135	0.36572	.	.	0.466230903105	0.46247	0.085403301131789	0.08474	0.125274018252	0.14122	0.242220818996	0.02994	T	0.034993	0.23541	T	-0.385282	0.02885	T	-0.480689	0.24373	T	0.0669139801470958	0.08211	T	0.365963	0.08520	T	0.27255806	0.50325	0.323194	0.58253	0.27255806	0.50324	0.323194	0.58252	-5.037	0.37250	T	.	.	0.115	0.23077	B	.;.	.;.	1.586822	0.20298	14.68	0.78811098136745938	0.12463	0.16809	0.19559	N	AEFBCI	0.134702	0.25480	N	-0.420084536060426	0.24766	1.33957	-0.432113367254151	0.24061	1.315493	0.994976096584844	0.33890	0.660377	0.49826	0	0.694456	0.67091	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.03	2.09	0.26154	0.206000	0.17174	0.041000	0.13868	0.599000	0.40250	0.416000	0.26298	0.009000	0.19889	0.725000	0.34934	0.0:0.7942:0.0:0.2058	8.238	0.30796	734	0.53889	IQ motif, EF-hand binding site;IQ motif, EF-hand binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.05	2550.43	33	chr12	113195640	.	C	T	2550.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.736;DP=533;ExcessHet=0;FS=1.616;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-1.682;SOR=0.579	GT:AD:DP:GQ:PL	0/1:113,112:225:99:2562,0,2533	9	0	1	0
chr12	114394776	114394776	C	G	exonic	TBX5	.	nonsynonymous SNV	TBX5:NM_080717:exon5:c.G478C:p.A160P,TBX5:NM_000192:exon6:c.G628C:p.A210P,TBX5:NM_181486:exon6:c.G628C:p.A210P	Holt-Oram syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3525243	Cardiovascular_phenotype|not_provided|Aortic_valve_disease_2	MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.553	0.0805632850795	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489817375	6.84e-07	6.84e-07	1.361e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	3.286e-05	3.283e-05	6.423e-05	0	9.653e-05	1.261e-05	7.98e-06	3.25e-05	1.915e-05	9.653e-05	0	0	0	0	0	0	0	0.0005	0	0.03	0.46910	D	0.222	0.28764	T	0.991	0.64070	D	0.867	0.62825	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	-2.35	0.88066	D	-0.95	0.26639	N	0.826	0.83781	0.371	0.88658	D	0.735	0.90944	D	10	0.7665634	0.76750	D	0.080563	0.73487	D	0.553	0.81544	0.434	0.48500	0.959890133301	0.95946	0.9323110139659497	0.93210	1.93690353185	0.93198	0.90032106638	0.96477	D	0.686669	0.90851	D	0.378262	0.88598	D	0.30557	0.88454	D	0.870420157909393	0.52033	D	0.933407	0.75038	D	0.90167314	0.91533	0.83167815	0.90294	0.90167314	0.91534	0.83167815	0.90295	-11.592	0.87813	D	0.22441384291702213	0.30306	0.988	0.94345	P	.;.;.;.	.;.;.;.	5.125932	0.85763	28.7	0.99736778234898493	0.83192	0.97406	0.74547	D	AEFBI	0.859820	0.77756	D	0.50236331732064	0.67228	5.053929	0.510916621769755	0.68723	5.259712	1.0	0.98316	0.446893	0.09132	0	0.563428	0.19063	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	5.75	5.75	0.90390	3.290000	0.51461	7.623000	0.62394	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.915000	0.45038	0.0:1.0:0.0:0.0	19.900	0.96980	946	0.12043	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	745.43	35	chr12	114394776	.	C	G	745.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.358;DP=422;ExcessHet=0;FS=0.786;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.93;ReadPosRankSum=-0.05;SOR=0.648	GT:AD:DP:GQ:PL	0/1:55,39:94:99:757,0,1293	9	0	1	0
chr12	116737810	116737810	G	A	exonic	SPRING1	.	nonsynonymous SNV	SPRING1:NM_001353623:exon1:c.C158T:p.P53L,SPRING1:NM_001353624:exon1:c.C91T:p.L31F,SPRING1:NM_001353625:exon1:c.C91T:p.L31F,SPRING1:NM_024738:exon1:c.C91T:p.L31F	.	341	1176	5	0	0	5	0.00212134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.119839453198	0.0002	0.000199681	0.0002	0.0001	9.171e-05	0.0015	0	0.0001	0.0012	0.0001	0.0001682	26	154602	rs199555935	0.0001	0.0001	9.933e-05	0.0001	0.0028	9.593e-05	9.068e-05	0.0017	0.0014	6.395e-05	2.292e-05	0	0.0019	1.885e-05	0.0028	5.261e-05	0.0002	7.008e-05	0.0001	0.0001	0.0001	0.0001	0.0014	8.662e-05	7.255e-05	0.0006	0.0005	9.625e-05	0	0	0	0.0014	0	0.0034	0.0001	0	0.0002	0.026	0.46910	D	0.18	0.29442	T	0.06	0.23119	B	0.029	0.21540	B	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	1.825	0.47900	L	0.77	0.49642	T	-1.69	0.40274	N	0.452	0.48963	-0.9095	0.46916	T	0.102	0.37718	T	10	0.043843806	0.03277	T	0.119839	0.80023	D	0.076	0.22200	.	.	0.734798047088	0.73243	0.649437564787553	0.64879	0.375535986837	0.39009	.	.	.	0.01396	0.11978	T	-0.360278	0.04114	T	-0.325669	0.41950	T	0.0238335153438272	0.01124	T	0.826217	0.48957	T	0.27804795	0.50860	0.20243077	0.44271	0.27804795	0.50860	0.20243077	0.44270	-4.39	0.29421	T	.	.	0.237	0.47083	B	.	.	4.412268	0.68264	25.2	0.99557936780448186	0.71583	0.98932	0.88807	D	ALL	0.643365	0.62000	D	0.341112496173373	0.58271	3.998497	0.416512855052622	0.62594	4.477378	0.999999999230258	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	4.75	4.75	0.59954	4.451000	0.59788	9.561000	0.80994	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.827:0.173	11.931	0.52133	648	0.63242	.	.	.	.	.	.	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	0.002191	0.005495	0.001359	0.009524	0.000000	0.000000	0.000000	0.000000	0.05	739.43	52	chr12	116737810	.	G	A	739.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.237;DP=454;ExcessHet=0;FS=3.014;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=-0.068;SOR=0.509	GT:AD:DP:GQ:PL	0/1:45,35:80:99:751,0,1074	9	0	1	0
chr12	117157954	117157954	A	C	exonic	FBXO21	.	nonsynonymous SNV	FBXO21:NM_015002:exon10:c.T1436G:p.V479G,FBXO21:NM_033624:exon10:c.T1457G:p.V486G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0109137514442	.	.	3.296e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs549960201	6.841e-06	6.84e-06	5.445e-06	8.25e-06	0.0003	3.46e-06	2.52e-06	6.096e-05	2.662e-05	0	0	0	0	0	0.0003	0	1.656e-05	8.116e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.05954	T	0.449	0.13713	T	0.005	0.26577	B	0.004	0.23121	B	0.000201	0.47681	D	0.141600	0.999983	0.54805	D	0.345	0.11182	N	0.86	0.46777	T	-1.12	0.50502	N	0.287	0.34552	-1.0519	0.13872	T	0.067	0.27708	T	10	0.07143137	0.10528	T	0.010914	0.27979	T	0.068	0.19811	0.317	0.29419	0.460303613973	0.45655	0.7751183186624536	0.77461	1.11315332147	0.78103	0.393591850996	0.24175	T	0.022299	0.35161	T	-0.285746	0.10067	T	-0.411562	0.32046	T	0.25584751367569	0.23133	T	0.626337	0.24523	T	0.08467941	0.19610	0.06663031	0.13674	0.08467941	0.19609	0.06663031	0.13673	-4.115	0.25511	T	.	.	0.071	0.12797	B	.;.;.;.	.;.;.;.	3.498950	0.48948	22.7	0.93173070731050622	0.22830	0.90465	0.51663	D	AEFDBI	0.255431	0.37455	N	-0.218024208979803	0.32394	1.826435	-0.0160886268482261	0.38988	2.30498	0.99951962141104	0.40117	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	2.639000	0.46236	11.193000	0.88739	0.756000	0.94297	0.966000	0.33990	1.000000	0.68203	0.988000	0.63387	0.7685:0.0:0.0794:0.1521	5.603	0.16646	933	0.16026	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	987.43	34	chr12	117157954	.	A	C	987.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.703;DP=422;ExcessHet=0;FS=2.378;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=-1.182;SOR=0.622	GT:AD:DP:GQ:PL	0/1:66,52:118:99:999,0,1614	9	0	1	0
chr12	124356683	124356683	G	A	exonic	NCOR2	.	nonsynonymous SNV	NCOR2:NM_001077261:exon24:c.C3170T:p.P1057L,NCOR2:NM_001206654:exon24:c.C3170T:p.P1057L,NCOR2:NM_006312:exon25:c.C3200T:p.P1067L	.	.	.	.	.	.	.	.	.	.	.	2472301	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.277	0.109909234296	.	.	1.117e-05	0	0	0	0	0	0.0017	0	6.5e-06	1	154602	rs775451734	6.815e-06	1.163e-05	5.946e-06	7.717e-06	4.673e-05	3.21e-06	2.32e-06	1.24e-05	6.44e-06	3.862e-05	0	0	0	0	0	4.77e-06	0	4.673e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-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	0.0	0.91255	D	0.012	0.63918	D	1.0	0.90584	D	0.998	0.88582	D	0.000015	0.62929	D	0.069639	0.999965	0.58761	D	.	.	.	2.1	0.35405	T	-7.84	0.96426	D	0.683	0.76853	-0.6265	0.63718	T	0.225	0.58919	T	10	0.71883106	0.73525	D	0.109909	0.78707	D	0.277	0.59375	.	.	0.534595378337	0.53109	0.49651581811250733	0.49572	0.714005411616	0.61858	0.775994300842	0.78324	T	0.79836	0.94831	D	-0.086024	0.38730	T	-0.179816	0.56541	T	0.906051576137543	0.55997	D	0.936106	0.77585	D	0.703652	0.78257	0.6173686	0.77721	0.703652	0.78259	0.6173686	0.77722	-3.962	0.23233	T	.	.	0.129	0.38099	B	.;.;.;.;.;.	.;.;.;.;.;.	4.909844	0.80777	27.4	0.99816963620599186	0.90061	0.96925	0.71691	D	AEFBI	0.623205	0.60724	D	0.730023519555161	0.81600	7.560526	0.68676017721585	0.81371	7.51142	0.999997418797017	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.88	4.88	0.63131	4.006000	0.56798	11.470000	0.92855	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.691000	0.33868	0.0:0.0:1.0:0.0	16.205	0.81939	489	0.76795	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1178.43	33	chr12	124356683	.	G	A	1178.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2;DP=397;ExcessHet=0;FS=1.705;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.802;SOR=0.529	GT:AD:DP:GQ:PL	0/1:43,45:88:99:1190,0,963	9	0	1	0
chr12	132062524	132062526	GCA	-	exonic	EP400	.	nonframeshift deletion	EP400:NM_015409:exon47:c.8157_8159del:p.Q2748del	.	350	929	220	16	7	259	0.119431	.	.	.	3198656	EP400-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	0.0695	.	0.0079	0.0062	0.0086	0.0139	0.0069	0.0074	0.0037	0.0077	0.0045336	118	26028	rs751944198	8.771e-05	0.0006	9.222e-05	8.317e-05	0.0004	7.501e-05	6.991e-05	0.0002	0.0002	0.0004	6.891e-05	0	7.673e-05	0.0001	0	7.45e-05	5.091e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0	0	0	0.0002	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	9177.6	34	chr12	132062523	.	GGCA	G	9177.6	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.945;DP=1190;ExcessHet=0.3701;FS=0.523;InbreedingCoeff=0.1996;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=0.753;SOR=0.758	GT:AD:DP:GQ:PL	0/1:5,47:83:99:2501,983,2297	8	0	2	0
chr12	132064762	132064762	A	C	exonic	EP400	.	nonsynonymous SNV	EP400:NM_015409:exon48:c.A8429C:p.Q2810P	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.478	0.0340409655114	.	0.000798722	0.0003	0.0003	0.0003	0	0	0.0002	0	0.0005	0.0002587	40	154602	rs150439516	0.0003	0.0003	0.0003	0.0004	0.0083	0.0003	0.0003	0.0065	0.0058	0.0010	0.0003	0	0	0	0.0083	0.0003	0.0006	0.0005	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	8.876e-05	0.0002	0	0.0003	0	0	9.414e-05	0	0.0002	0.0009	0.0004	0.083	0.33091	T	0.136	0.34009	T	0.984	0.60733	D	0.964	0.71005	D	0.009937	0.30138	N	0.320533	0.857456	0.35865	D	.	.	.	-3.12	0.92774	D	-1.54	0.37375	N	0.494	0.52740	0.470	0.90121	D	0.687	0.89198	D	10	0.15654469	0.29480	T	0.034041	0.55401	D	0.478	0.76946	.	.	0.865626787234	0.86432	0.5247952295373927	0.52403	0.788903395168	0.65670	0.435491979122	0.29960	T	.	.	.	0.0142557	0.53604	T	0.143495	0.79771	D	0.0464809906585061	0.04872	T	0.424058	0.11326	T	.	.	.	.	.	.	.	.	-4.878	0.35487	T	.	.	0.053	0.00291	B	.;.	.;.	1.605475	0.20521	14.79	0.97096431835748542	0.32349	0.92116	0.54980	D	AEFDGBHCI	0.379554	0.46253	N	0.066520036217017	0.44904	2.756234	0.000872176055159726	0.39757	2.362128	0.999999999891712	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	3.498000	0.53064	2.880000	0.35323	-0.111000	0.15049	1.000000	0.71638	0.961000	0.29326	0.031000	0.13245	1.0:0.0:0.0:0.0	14.316	0.66006	964	0.07719	.;.	.	.	.	.	.	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	0.006048	0.000000	0.010870	0.017544	0.000000	0.008621	0.000000	0.000000	0.05	336.43	35	chr12	132064762	.	A	C	336.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.527;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.47;ReadPosRankSum=-0.143;SOR=0.732	GT:AD:DP:GQ:PL	0/1:33,19:52:99:348,0,826	9	0	1	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	829.52	139	chr13	38859428	.	G	C	829.52	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-3.772;DP=1447;ExcessHet=4.5998;FS=263.084;InbreedingCoeff=-0.5678;MLEAC=7;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=1.69;SOR=11.973	GT:AD:DP:GQ:PL	0/1:100,36:136:52:52,0,1871	2	0	6	2
chr13	44575896	44575896	G	A	exonic	TSC22D1	.	nonsynonymous SNV	TSC22D1:NM_001243799:exon1:c.C179T:p.P60L,TSC22D1:NM_183422:exon1:c.C179T:p.P60L	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0415549715379	0.0002	.	0.0002	0.0002	0.0006	0	0	0.0002	0	0	0.0001746	27	154602	rs200325152	0.0002	0.0002	0.0002	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0004	0.0004	0.0011	0	0	0.0026	0.0001	0.0004	1.159e-05	0.0002	0.0002	7.708e-05	0.0002	0.0002	0.0001	9.24e-05	7.907e-05	5.993e-05	9.653e-05	0	0	0.0017	0	0	0.0063	0.0001	0.0005	0.0002	0.005	0.72154	D	0.136	0.92824	T	0.999	0.77913	D	0.96	0.70309	D	0.000142	0.49130	D	0.000000	0.999994	0.58761	D	1.65	0.42232	L	1.13	0.38556	T	-2.12	0.85027	N	0.581	0.62611	-0.8066	0.54754	T	0.150	0.47699	T	10	0.07013464	0.10160	T	0.041555	0.59992	D	0.242	0.54781	.	.	0.263709349026	0.25991	0.4023990188633702	0.40155	0.427851054671	0.43120	0.58223938942	0.50400	T	0.22995	0.59589	T	-0.241358	0.15175	T	-0.262504	0.48573	T	0.268660604953766	0.23689	T	0.90211	0.65873	D	0.13754065	0.31842	0.18460234	0.41523	0.13754065	0.31842	0.18460234	0.41522	-4.629	0.32534	T	.	.	0.089	0.12037	B	.;.;.	.;.;.	4.879036	0.79994	27.2	0.9985494504719058	0.93368	0.86209	0.45446	D	ALL	0.771633	0.70620	D	0.458963673645425	0.64713	4.732169	0.431717019494809	0.63550	4.591152	0.999999999999817	0.74766	0.65757	0.49021	0	0.706955	0.78570	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.67	3.67	0.41236	6.839000	0.75157	9.577000	0.81021	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.817000	0.38496	0.0:0.0:1.0:0.0	15.182	0.72653	919	0.19497	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005550	0.010204	0.008152	0.011696	0.000000	0.000000	0.000000	0.000000	0.05	1414.43	34	chr13	44575896	.	G	A	1414.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.363;DP=493;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-0.789;SOR=0.656	GT:AD:DP:GQ:PL	0/1:88,64:152:99:1426,0,2216	9	0	1	0
chr13	45587090	45587090	T	C	exonic	ERICH6B	.	nonsynonymous SNV	ERICH6B:NM_182542:exon5:c.A829G:p.T277A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0140037690243	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1374753426	6.431e-06	6.156e-06	2.82e-06	1.014e-05	0.0002	3.03e-06	2.19e-06	4.063e-05	2.853e-05	0	0	0	0	0	0.0002	9.268e-07	0	8.835e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.60337	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.99917	0.21543	N	0.695	0.17993	N	3.14	0.07920	T	-1.01	0.26639	N	0.55	0.57604	-1.0708	0.09238	T	0.037	0.16160	T	9	0.39342648	0.55056	T	0.014004	0.33816	T	0.206	0.49396	0.189	0.09907	0.134241683229	0.13084	0.1526777514864248	0.15189	.	.	0.491676270962	0.37671	T	0.011886	0.10538	T	-0.263355	0.12511	T	-0.419765	0.31103	T	0.383479272877788	0.28316	T	0.308669	0.05963	T	0.20956896	0.43227	0.18664137	0.41849	0.20956896	0.43227	0.18664137	0.41848	-3.615	0.18074	T	.	.	0.264	0.49874	B	.	.	3.362496	0.46425	22.3	0.99411658162012773	0.63310	0.85307	0.44428	D	AEFBI	0.121773	0.23660	N	0.261871362759926	0.54228	3.588979	0.194211453879357	0.49530	3.155008	0.0354877326035048	0.14202	0.487112	0.14033	0	0.55458	0.17659	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.01	4.01	0.45821	2.949000	0.48766	6.957000	0.57044	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.005000	0.06747	0.0:0.0:0.0:1.0	9.630	0.38941	704	0.57414	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	810.43	39	chr13	45587090	.	T	C	810.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.099;DP=377;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=0.704;SOR=0.704	GT:AD:DP:GQ:PL	0/1:29,34:63:99:822,0,764	9	0	1	0
chr13	59971024	59971024	G	A	exonic	DIAPH3	.	nonsynonymous SNV	DIAPH3:NM_001258370:exon10:c.C998T:p.P333L,DIAPH3:NM_030932:exon10:c.C998T:p.P333L,DIAPH3:NM_001258367:exon14:c.C1649T:p.P550L,DIAPH3:NM_001258368:exon14:c.C1577T:p.P526L,DIAPH3:NM_001258366:exon15:c.C1754T:p.P585L,DIAPH3:NM_001042517:exon16:c.C1787T:p.P596L,DIAPH3:NM_001258369:exon16:c.C1787T:p.P596L	Auditory neuropathy, autosomal dominant, 1, Autosomal dominant	0	1461	59	2	0	63	0.0211055	.	.	.	504315	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.304	.	0.0040	0.00778754	0.0085	0.0008	0.0062	0.0001	0.0014	0.0060	0.0089	0.0318	0.0076778	1187	154602	rs150023947	0.0063	0.0063	0.0055	0.0072	0.0319	0.0062	0.0062	0.0309	0.0305	0.0006	0.0044	0.0296	0.0001	0.0011	0.0119	0.0044	0.0086	0.0319	0.0047	0.0047	0.0042	0.0052	0.0251	0.0044	0.0043	0.0215	0.0201	0.0008	0.0461	0.0051	0.0300	0	0.0016	0.0034	0.0043	0.0085	0.0251	0.005	0.68238	D	0.001	0.83351	D	0.125	0.30817	B	0.028	0.30031	B	0.000959	0.40932	D	0.247452	1	0.81001	D	2.25	0.63811	M	-2.15	0.86481	D	-5.16	0.84246	D	0.291	0.33469	-0.2568	0.76174	T	0.415	0.76211	T	10	0.0070751607	0.00161	T	.	.	.	0.304	0.62510	.	.	0.931659697617	0.93095	0.43640497725947763	0.43557	0.595140059168	0.54798	0.630806744099	0.57260	T	0.154959	0.49648	T	-0.235202	0.15967	T	-0.0869431	0.64391	T	0.0280072759026319	0.01689	T	0.813719	0.56350	T	0.23259822	0.46050	0.23462705	0.48684	0.23259822	0.46050	0.23462705	0.48683	-8.137	0.63445	D	.	.	0.096	0.16451	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.435212	0.47760	22.5	0.98970279956217821	0.49520	0.96298	0.68457	D	AEFDBI	0.657088	0.62884	D	-0.00404400910006807	0.41672	2.496801	0.127604620753477	0.45966	2.850574	0.999999997408739	0.74766	0.675385	0.55134	0	0.633656	0.55848	0	0.693117	0.63056	0	0.655142	0.61905	0	.	.	5.27	4.41	0.52588	5.930000	0.69823	6.163000	0.54371	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.749000	0.35751	0.0765:0.0:0.9235:0.0	13.275	0.59617	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	1	0	0	0	0	1	0	0.012601	0.000000	0.010870	0.011696	0.050000	0.000000	0.021472	0.018939	0.05	1042.43	33	chr13	59971024	.	G	A	1042.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.324;DP=371;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=1.46;SOR=0.664	GT:AD:DP:GQ:PL	0/1:30,40:70:99:1054,0,760	9	0	1	0
chr13	61411453	61411453	T	A	exonic	PCDH20	.	nonsynonymous SNV	PCDH20:NM_022843:exon2:c.A2646T:p.E882D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.00948526075562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.18371	T	0.0	0.92824	D	.	.	.	.	.	.	0.000003	0.62929	D	0.000000	0.952219	0.37774	D	0.895	0.22405	L	0.51	0.55439	T	-0.54	0.16598	N	0.33	0.37093	-0.8731	0.50295	T	0.164	0.50045	T	10	0.23747957	0.40849	T	0.009485	0.24832	T	0.256	0.56694	0.489	0.57415	0.595437784881	0.59222	0.43121529406680764	0.43038	0.328025167496	0.34925	0.527984857559	0.42751	T	0.012762	0.11161	T	-0.0385584	0.46164	T	-0.293163	0.45443	T	0.603427112102509	0.36537	D	0.816918	0.47330	T	0.16690753	0.37054	0.20598748	0.44792	0.16690753	0.37054	0.20598748	0.44791	-3.569	0.17410	T	.	.	0.080	0.07745	B	.;.	.;.	1.788274	0.22733	15.74	0.98166857627438808	0.38822	0.62788	0.31888	D	AEFBCI	0.398950	0.47442	N	-0.202143833230663	0.33046	1.870462	-0.274459002700704	0.28943	1.617679	3.00464959009131E-4	0.06406	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.584449	0.35598	0	.	.	6.07	-0.602	0.11051	0.669000	0.24823	-0.312000	0.10031	0.665000	0.62972	0.951000	0.33123	0.025000	0.21018	0.999000	0.91618	0.0:0.4379:0.0:0.5621	11.689	0.50766	960	0.08626	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2198.43	36	chr13	61411453	.	T	A	2198.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.338;DP=486;ExcessHet=0;FS=0.572;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.784;SOR=0.629	GT:AD:DP:GQ:PL	0/1:84,81:165:99:2210,0,2291	9	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1754.69	104	chr13	69882456	.	G	A	1754.69	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.531;DP=1331;ExcessHet=22.563;FS=222.247;InbreedingCoeff=-0.9152;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=0.573;SOR=12.405	GT:AD:DP:GQ:PL	0/1:91,46:144:99:121,0,1235	0	0	10	0
chr13	75326228	75326228	G	C	exonic	TBC1D4	.	nonsynonymous SNV	TBC1D4:NM_001286658:exon10:c.C2002G:p.L668V,TBC1D4:NM_001286659:exon10:c.C2002G:p.L668V,TBC1D4:NM_014832:exon10:c.C2002G:p.L668V	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0289985838194	.	.	2.49e-05	0	0	0	0	1.5e-05	0	0.0001	1.94e-05	3	154602	rs759763499	1.573e-05	1.573e-05	1.089e-05	2.063e-05	0.0003	1.048e-05	8.75e-06	0.0001	9.45e-05	0	0	0	0	0	0.0003	0	8.279e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.40319	T	0.036	0.52060	D	0.729	0.90584	P	0.623	0.84481	P	0.007292	0.31484	N	0.147378	0.999994	0.58761	D	2.05	0.56469	M	0.65	0.52642	T	-1.2	0.30964	N	0.505	0.53708	-0.8962	0.48370	T	0.202	0.55947	T	10	0.16101041	0.30213	T	0.028999	0.51584	D	0.151	0.39764	0.246	0.18139	0.655285266991	0.65241	0.5710197310555528	0.57029	1.09284184008	0.77491	0.512019395828	0.40505	T	0.08623	0.37901	T	-0.33773	0.05547	T	-0.430753	0.29849	T	0.287652403116226	0.24491	T	0.918208	0.71813	D	0.088550374	0.20660	0.06473003	0.13016	0.088550374	0.20660	0.06473003	0.13015	-7.72	0.59147	D	.	.	0.070	0.11749	B	.;.;.;.;.	.;.;.;.;.	3.215418	0.43783	21.8	0.98683902803236379	0.44652	0.85521	0.44662	D	ALL	0.275743	0.39063	N	-0.200692022945938	0.33104	1.874508	-0.296338441914409	0.28219	1.571653	0.999999877907866	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.657601	0.63696	0	.	.	5.48	1.84	0.24348	3.364000	0.52052	4.571000	0.43881	-0.633000	0.04490	0.998000	0.41325	1.000000	0.68203	0.307000	0.24666	0.1855:0.1165:0.6981:0.0	7.865	0.28693	966	0.07191	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	3213.14	35	chr13	75326228	.	G	C	3213.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.342;DP=524;ExcessHet=0.2348;FS=5.225;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=2.2;SOR=0.452	GT:AD:DP:GQ:PL	0/1:70,64:134:99:1527,0,1726	8	0	2	0
chr13	98723926	98723926	G	T	exonic	SLC15A1	.	nonsynonymous SNV	SLC15A1:NM_005073:exon5:c.C351A:p.S117R	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.0105229369843	0.0008	0.000998403	0.0003	0.0029	0.0002	0	0	0	0	0	0.0002652	41	154602	rs8187821	8.961e-05	8.961e-05	9.801e-05	8.113e-05	0.0029	7.689e-05	7.233e-05	0.0025	0.0023	0.0029	0.0001	0	0	0	0	1.349e-05	0.0002	1.159e-05	0.0007	0.0007	0.0008	0.0007	0.0025	0.0006	0.0006	0.0022	0.0020	0.0025	0	0.0004	0	0	0	0	0	0	0	0.003	0.68238	D	0.168	0.30631	T	0.464	0.36423	P	0.395	0.44317	B	0.036040	0.24572	N	0.486708	1	0.08975	N	1.5	0.37844	L	3.48	0.05130	T	-1.77	0.41809	N	0.208	0.23125	-1.0525	0.13709	T	0.026	0.11353	T	10	0.0066335797	0.00150	T	0.010523	0.27152	T	0.064	0.18567	0.202	0.11659	0.117506650769	0.11410	0.7219681298051098	0.72140	0.0557444719355	0.06166	0.292711108923	0.09318	T	0.076915	0.35532	T	-0.626257	0.00101	T	-0.675087	0.07287	T	0.0344211672033335	0.02709	T	0.80472	0.45238	T	0.19423258	0.41165	0.15163064	0.35709	0.19423258	0.41165	0.15163064	0.35708	-6.956	0.53712	T	.	.	0.224	0.45532	B	.	.	1.227510	0.16217	12.40	0.99143743061547684	0.53600	0.23274	0.22023	N	AEFDGBHCI	0.303389	0.41138	N	-0.41416828170258	0.24972	1.352229	-0.563377728569561	0.20450	1.101887	0.997467311216607	0.35646	0.533608	0.22052	0	0.59043	0.45803	0	0.685742	0.62368	0	0.584449	0.35598	0	.	.	5.65	1.9	0.24770	0.950000	0.28720	0.418000	0.18188	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.2174:0.0:0.5537:0.2289	4.928	0.13253	934	0.15400	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	.	.	.	.	.	.	.	.	0.05	1305.43	33	chr13	98723926	.	G	T	1305.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.016;DP=424;ExcessHet=0;FS=1.517;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-0.105;SOR=0.846	GT:AD:DP:GQ:PL	0/1:62,54:116:99:1317,0,1588	9	0	1	0
chr13	99295296	99295296	G	A	exonic	GPR183	.	nonsynonymous SNV	GPR183:NM_004951:exon2:c.C850T:p.H284Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	.	0.0035	0.00399361	0.0011	0.0114	0.0007	0	0	2.998e-05	0	0	0.0010414	161	154602	rs62637588	0.0003	0.0003	0.0003	0.0002	0.0105	0.0003	0.0003	0.0096	0.0093	0.0105	0.0007	0	0	0	0.0005	6.295e-06	0.0005	1.159e-05	0.0029	0.0029	0.0032	0.0026	0.0102	0.0027	0.0026	0.0094	0.0091	0.0102	0	0.0005	0	0	0	0	1.47e-05	0.0019	0	0.074	0.34621	T	0.059	0.45961	T	0.156	0.28196	B	0.26	0.39460	B	0.099135	0.19948	N	0.555840	0.99996	0.19072	N	1.485	0.37223	L	1.24	0.36691	T	-1.13	0.29114	N	0.071	0.04426	-1.0072	0.27789	T	0.051	0.21572	T	9	0.004378438	0.00089	T	.	.	.	0.065	0.18881	.	.	0.0482279557977	0.04254	0.2914259225897653	0.29055	0.350567368242	0.36905	0.34860047698	0.17716	T	0.146236	0.48375	T	-0.657262	0.00065	T	-0.707493	0.05425	T	0.010124326655209	0.00136	T	0.542646	0.18460	T	0.054182816	0.10359	0.08088178	0.18334	0.054182816	0.10359	0.08088178	0.18334	-4.104	0.25349	T	.	.	0.138	0.30076	B	.	.	0.819203	0.11904	8.467	0.96164235378780283	0.28908	0.30001	0.23969	N	AEFDGBCI	0.103583	0.20749	N	-0.738133771750364	0.14957	0.7496279	-0.717674219132695	0.16521	0.874346	0.999999840580175	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.91	2.28	0.27583	0.454000	0.21539	2.592000	0.33474	-0.113000	0.14837	0.049000	0.21372	0.978000	0.30204	0.993000	0.69303	0.186:0.0:0.5853:0.2286	6.142	0.19480	912	0.21483	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	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1628.43	33	chr13	99295296	.	G	A	1628.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.09;DP=490;ExcessHet=0;FS=1.237;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=-0.2;SOR=0.827	GT:AD:DP:GQ:PL	0/1:110,64:174:99:1640,0,2931	9	0	1	0
chr13	102767470	102767470	T	C	exonic	TEX30	.	nonsynonymous SNV	TEX30:NM_001286776:exon4:c.A184G:p.M62V,TEX30:NM_138779:exon5:c.A307G:p.M103V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.0424668726681	7.7e-05	0.00119808	0.0002	9.909e-05	0.0003	0.0011	0	0.0001	0	0.0003	0.0002264	35	154602	rs200314758	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0006	0.0006	8.962e-05	0.0004	0	0.0009	1.875e-05	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0002	0.0023	0.0002	0.0002	0.0013	0.0010	4.811e-05	0	0.0001	0	0.0023	0	0	0.0002	0	0.0012	0.0	0.91255	D	0.025	0.60972	D	0.998	0.73220	D	0.963	0.70837	D	0.000000	0.84330	D	0.000000	0.999978	0.81001	D	3.095	0.87515	M	1.88	0.23884	T	-3.36	0.66549	D	0.896	0.90590	-0.6750	0.61602	T	0.189	0.53960	T	10	0.08807486	0.15131	T	0.042467	0.60478	D	0.506	0.78724	.	.	0.441636318388	0.43783	0.5225612372426169	0.52179	0.702450646046	0.61212	0.566913366318	0.48242	T	0.199831	0.55722	T	-0.0452379	0.45167	T	0.137615	0.79391	D	0.289840734832763	0.24583	T	0.908809	0.68490	D	0.7294583	0.79693	0.78636575	0.87421	0.7294583	0.79694	0.78636575	0.87421	-10.578	0.77294	D	.	.	0.790	0.76814	P	.;.;.	.;.;.	4.541693	0.71388	25.7	0.99500399415124563	0.67973	0.98740	0.86245	D	AEFGBI	0.784222	0.71497	D	0.783548344995981	0.85067	8.466698	0.7351903281527	0.85045	8.465477	0.999999976908747	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	6.163000	0.71702	5.063000	0.47105	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.521	0.75604	945	0.12563	Dienelactone hydrolase;Dienelactone hydrolase;Dienelactone hydrolase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	611.43	32	chr13	102767470	.	T	C	611.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.081;DP=294;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.12;SOR=0.6	GT:AD:DP:GQ:PL	0/1:21,25:46:99:623,0,531	9	0	1	0
chr13	113403869	113403869	-	ACCCTGTTCCCAAGCCCGTTCCTGAGCCCCTTTCTGGGTCTGACCCTGAGCCTCTATGTGGGTCTGCTCCCA	exonic	LOC101928841	.	nonframeshift insertion	LOC101928841:NM_001304433:exon2:c.4320_4321insTGGGAGCAGACCCACATAGAGGCTCAGGGTCAGACCCAGAAAGGGGCTCAGGAACGGGCTTGGGAACAGGGT:p.G1440_R1441insWEQTHIEAQGQTQKGAQERAWEQG,LOC101928841:NM_001375393:exon2:c.4320_4321insTGGGAGCAGACCCACATAGAGGCTCAGGGTCAGACCCAGAAAGGGGCTCAGGAACGGGCTTGGGAACAGGGT:p.G1440_R1441insWEQTHIEAQGQTQKGAQERAWEQG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.883e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.167e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	869.56	210	chr13	113403869	.	G	GACCCTGTTCCCAAGCCCGTTCCTGAGCCCCTTTCTGGGTCTGACCCTGAGCCTCTATGTGGGTCTGCTCCCA	869.56	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-0.898;DP=1940;ExcessHet=0;FS=20.006;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.5;MQ=59.64;MQRankSum=-1.155;QD=4.41;ReadPosRankSum=-8.634;SOR=2.318	GT:AD:DP:GQ:PL	0/1:161,36:197:99:873,0,6395	1	0	1	8
chr13	113405323	113405323	G	A	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.C2867T:p.A956V,LOC101928841:NM_001375393:exon2:c.C2867T:p.A956V	.	935	572	13	2	0	17	0.0146425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00858626	.	.	.	.	.	.	.	.	0.009144	238	26028	rs117605449	0.0115	0.0088	0.0114	0.0116	0.0159	0.0113	0.0112	0.0144	0.0139	0.0010	0.0077	0.0105	0.0001	0.0048	0.0082	0.0122	0.0105	0.0159	0.0074	0.0074	0.0075	0.0072	0.0178	0.0070	0.0069	0.0148	0.0137	0.0020	0	0.0061	0.0081	0	0.0057	0.0034	0.0110	0.0099	0.0178	.	.	.	0.163	0.31125	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0036976635	0.00068	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017884	0.14511	T	.	.	.	.	.	.	.	.	.	0.458954	0.13262	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31783	B	.	.	0.495224	0.08645	5.414	0.52185299493510062	0.04700	0.15857	0.19114	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999994668976826	0.74766	0.080785	0.02172	0	0.096583	0.02683	0	0.074216	0.02223	0	0.079188	0.02158	0	0.0720215	0.16903	3.49	1.45	0.21708	-0.018000	0.12508	-1.256000	0.05892	-0.330000	0.05784	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1035:0.1533:0.7432:0.0	8.835	0.34265	976	0.04745	.	ADPRHL1|ADPRHL1	Muscle_Skeletal|Nerve_Tibial	.	.	.	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	.	.	.	.	.	.	.	.	0.05	963.43	64	chr13	113405323	.	G	A	963.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.222;DP=586;ExcessHet=0;FS=3.046;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-1.534;SOR=0.74	GT:AD:DP:GQ:PL	0/1:36,42:78:99:975,0,762	9	0	1	0
chr13	113804975	113804975	C	T	exonic	TMEM255B	.	nonsynonymous SNV	TMEM255B:NM_182614:exon8:c.C760T:p.R254C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.009252888159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.475e-05	2.668e-05	2.6e-05	2.349e-05	0.0001	1.812e-05	1.608e-05	4.583e-05	3.276e-05	0.0001	0	0	5.04e-05	0	0	1.889e-05	1.658e-05	9.286e-05	1.315e-05	1.313e-05	0	2.691e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.121	0.27783	T	0.198	0.27767	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	0.708748	0.30034	N	-0.695	0.01866	N	0.95	0.43279	T	3.82	0.00065	N	0.361	0.40264	-1.0378	0.17985	T	0.045	0.19194	T	9	0.07451153	0.11398	T	0.009253	0.24296	T	0.062	0.17934	0.394	0.41935	0.0806252709748	0.07271	0.48033324140708794	0.47953	0.0920449276398	0.10393	0.318159252405	0.13142	T	0.002016	0.01422	T	-0.333281	0.05866	T	-0.534364	0.18852	T	0.0425461754202843	0.04154	T	0.584642	0.21276	T	0.05519707	0.10693	0.03538997	0.02781	0.05519707	0.10693	0.03538997	0.02780	-4.639	0.32658	T	.	.	0.072	0.04356	B	.	.	0.850429	0.12226	8.770	0.91890187304356841	0.21209	0.13564	0.17927	N	AEFDBCI	0.059508	0.11246	N	-0.999371713067721	0.08618	0.4047321	-0.918196971277305	0.11665	0.5956668	0.997025796198856	0.35208	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.711	0.71501	0	.	.	4.46	0.564	0.16487	2.300000	0.43280	0.334000	0.17313	-0.939000	0.02101	1.000000	0.71638	0.624000	0.25831	0.002000	0.04165	0.0:0.1756:0.1527:0.6717	5.128	0.14225	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	0	0	.	.	.	.	.	.	.	.	0.05	2683.43	38	chr13	113804975	.	C	T	2683.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.435;DP=743;ExcessHet=0;FS=3.658;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=0.074;SOR=1.012	GT:AD:DP:GQ:PL	0/1:68,106:174:99:2695,0,1418	9	0	1	0
chr14	20747837	20747837	G	A	exonic	EDDM3A	.	nonsynonymous SNV	EDDM3A:NM_006683:exon2:c.G257A:p.S86N	.	.	.	.	.	.	.	.	.	.	.	2714571	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00245575216734	.	.	8.243e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs532594291	1.984e-05	2.052e-05	2.45e-05	1.513e-05	2.608e-05	1.392e-05	1.203e-05	1.83e-05	1.582e-05	0	0	0	0	0	0	2.608e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.12961	T	0.522	0.10391	T	0.001	0.07471	B	0.001	0.04355	B	0.423104	0.04660	N	1.378240	1	0.08975	N	0.405	0.12330	N	0.94	0.43672	T	1.0	0.01408	N	0.028	0.00618	-1.0510	0.14119	T	0.073	0.29675	T	10	0.028373152	0.00970	T	0.002456	0.04840	T	0.054	0.15330	0.147	0.05039	0.194818534648	0.19098	0.10616492581970637	0.10546	0.036009807883	0.03802	0.300982058048	0.10548	T	0.001993	0.01403	T	-0.476151	0.00779	T	-0.814078	0.01576	T	0.0474835187196732	0.05051	T	0.264674	0.04299	T	0.030141084	0.02626	0.05337572	0.08979	0.030141084	0.02625	0.05337572	0.08978	-3.531	0.16869	T	.	.	0.065	0.01834	B	.	.	0.351038	0.07241	3.840	0.94416396250383516	0.24819	0.00498	0.02351	N	AEFBI	0.018529	0.00569	N	-1.17509415503401	0.05378	0.2450481	-1.26639008852798	0.04893	0.2318861	0.697169479521736	0.22654	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	1.9	-1.21	0.09033	-0.479000	0.06647	1.884000	0.29472	0.373000	0.20310	0.010000	0.18352	0.941000	0.28781	0.823000	0.38780	0.487:0.0:0.513:0.0	5.105	0.14111	779	0.47767	Ribonuclease A-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	.	.	.	.	.	.	.	.	0.1875	429.12	88	chr14	20747837	.	G	A	429.12	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-3.181;DP=752;ExcessHet=0.7463;FS=409.242;InbreedingCoeff=-0.2855;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=-0.009;SOR=9.108	GT:AD:DP:GQ:PL	0/1:75,38:121:99:215,0,1445	5	0	3	2
chr14	23375867	23375867	G	A	exonic	IL25	.	nonsynonymous SNV	IL25:NM_022789:exon2:c.G521A:p.R174H,IL25:NM_172314:exon3:c.G473A:p.R158H	.	425	1086	11	0	0	11	0.00503894	.	.	.	714071	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.190	0.0241501088893	0.0064	0.00259585	0.0055	0.0021	0.0034	0	0.0008	0.0079	0.0056	0.0040	0.005705	882	154602	rs148309201	0.0079	0.0079	0.0079	0.0079	0.0142	0.0078	0.0077	0.0117	0.0108	0.0018	0.0053	0.0087	0	0.0011	0.0142	0.0092	0.0067	0.0037	0.0057	0.0057	0.0059	0.0054	0.0084	0.0054	0.0052	0.0079	0.0076	0.0022	0	0.0074	0.0112	0	0.0009	0.0102	0.0084	0.0071	0.0041	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.001206	0.39820	N	0.115089	0.833872	0.34960	D	1.895	0.50365	L	0.46	0.56281	T	-4.43	0.77554	D	0.463	0.49965	-0.5781	0.65692	T	0.170	0.51003	T	10	0.011588514	0.00253	T	0.02415	0.47134	T	0.190	0.46781	.	.	0.739739496051	0.73740	0.4604227492752098	0.45960	0.48238453677	0.47196	0.68981552124	0.65679	T	0.703597	0.91487	D	-0.271127	0.11632	T	-0.154412	0.58852	T	0.0287704795290709	0.01803	T	0.828317	0.49240	T	0.25198415	0.48211	0.1481424	0.35030	0.25198415	0.48211	0.1481424	0.35029	-7.247	0.55911	T	.	.	0.220	0.47687	B	.;.	.;.	5.078519	0.84746	28.4	0.99946896847765299	0.99913	0.88417	0.48335	D	AEFBI	0.346308	0.44117	N	0.483332927641002	0.66117	4.909	0.478738896455998	0.66585	4.971046	0.999992319827676	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.616487	0.41570	0	0.542086	0.14980	0	.	.	4.58	4.58	0.56077	2.638000	0.46228	5.662000	0.49222	0.662000	0.56354	0.978000	0.35038	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	12.739	0.56615	373	0.84140	.;.	.	.	.	.	.	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	0.008560	0.005051	0.010870	0.002924	0.000000	0.034483	0.006098	0.003788	0.05	905.43	33	chr14	23375867	.	G	A	905.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.463;DP=416;ExcessHet=0;FS=1.827;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.072;SOR=0.463	GT:AD:DP:GQ:PL	0/1:51,40:91:99:917,0,1375	9	0	1	0
chr14	24141246	24141246	C	T	exonic	EMC9	.	nonsynonymous SNV	EMC9:NM_016049:exon2:c.G59A:p.R20Q	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0002	0.00579073	0.0032	0.0003	8.655e-05	0.0002	0	0	0.0022	0.0232	0.0028331	438	154602	rs150583293	0.0013	0.0013	0.0008	0.0018	0.0199	0.0012	0.0012	0.0191	0.0188	2.987e-05	8.944e-05	0	2.519e-05	0	0.0007	1.169e-05	0.0021	0.0199	0.0009	0.0010	0.0005	0.0015	0.0271	0.0008	0.0008	0.0233	0.0219	0.0001	0	0.0004	0	0.0002	0	0	1.47e-05	0	0.0271	0.109	0.29288	T	0.13	0.34716	T	0.529	0.37682	P	0.06	0.26717	B	0.000914	0.41128	D	0.216188	0.979536	0.81001	D	1.12	0.28775	L	0.87	0.46412	T	-1.68	0.40082	N	0.217	0.34981	-1.0315	0.19970	T	0.075	0.30179	T	10	0.0072508752	0.00165	T	.	.	.	0.079	0.23065	.	.	0.609044548629	0.60590	0.426052312909962	0.42522	0.824985354454	0.67349	0.668601870537	0.62638	T	0.054032	0.29610	T	-0.51395	0.00477	T	-0.49411	0.22961	T	0.0531274905308991	0.06040	T	.	.	.	0.40158123	0.60842	0.30719498	0.56741	0.40158123	0.60842	0.30719498	0.56740	-7.394	0.56862	T	.	.	0.144	0.31783	B	.;.	.;.	4.767813	0.77149	26.6	0.99889125635466325	0.96359	0.62928	0.31931	D	ALL	0.263379	0.38094	N	0.104468491624002	0.46670	2.903933	0.250130141003061	0.52656	3.439095	0.999999999999853	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	6.08	5.19	0.71428	2.092000	0.41326	7.658000	0.64072	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.0:0.9231:0.0:0.0769	13.100	0.58630	894	0.26265	MPN domain;MPN 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	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1304.43	36	chr14	24141246	.	C	T	1304.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.34;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.817;SOR=0.77	GT:AD:DP:GQ:PL	0/1:38,52:90:99:1316,0,840	9	0	1	0
chr14	24310669	24310669	C	T	exonic	LTB4R2	.	nonsynonymous SNV	LTB4R2:NM_001164692:exon2:c.C5T:p.S2L,LTB4R2:NM_019839:exon2:c.C5T:p.S2L	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0106179548891	.	0.000199681	0.0002	0	0	0	0	1.522e-05	0	0.0010	0.0001229	19	154602	rs575238153	5.541e-05	5.609e-05	2.995e-05	8.114e-05	0.0008	4.544e-05	4.156e-05	0.0007	0.0006	0	0	0	0	0	0	4.496e-06	6.623e-05	0.0008	3.282e-05	3.281e-05	2.569e-05	4.026e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0006	0.127	0.27080	T	0.35	0.19480	T	0.001	0.07471	B	0.0	0.01387	B	0.408713	0.04578	U	1.517720	0.999921	0.19486	N	0	0.06538	N	-1.16	0.78082	T	-2.0	0.46146	N	0.056	0.02759	-0.9299	0.44153	T	0.219	0.58150	T	10	0.013765156	0.00291	T	0.010618	0.27366	T	0.128	0.35103	0.334	0.32167	0.638171007754	0.63519	0.25704236242867395	0.25618	0.469351748334	0.46246	0.434974372387	0.29890	T	0.074827	0.35033	T	-0.381737	0.03038	T	-0.371556	0.36708	T	0.0321499514188364	0.02331	T	.	.	.	0.057551198	0.11466	0.040677525	0.04453	0.057551198	0.11466	0.040677525	0.04452	.	.	.	.	.	0.211	0.46619	B	.;.;.;.;.	.;.;.;.;.	1.923299	0.24430	16.39	0.95749691036000062	0.27721	0.01192	0.04260	N	ALL	0.053900	0.09753	N	-1.15837124410478	0.05643	0.2578083	-1.15712379803205	0.06640	0.3203383	0.999999982781329	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.723109	0.80598	0	0.372554	0.06265	0	.	.	4.23	-2.29	0.06419	-0.468000	0.06733	-0.055000	0.12496	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.985000	0.61073	0.1553:0.2955:0.0:0.5492	5.001	0.13610	856	0.34373	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2064.43	37	chr14	24310669	.	C	T	2064.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.515;DP=480;ExcessHet=0;FS=5.917;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.45;SOR=0.569	GT:AD:DP:GQ:PL	0/1:68,84:152:99:2076,0,1519	9	0	1	0
chr14	41886911	41886911	G	A	exonic	LRFN5	.	nonsynonymous SNV	LRFN5:NM_001346173:exon2:c.G286A:p.A96T,LRFN5:NM_001346175:exon2:c.G286A:p.A96T,LRFN5:NM_001330106:exon3:c.G286A:p.A96T,LRFN5:NM_152447:exon3:c.G286A:p.A96T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0463429250875	.	0.000199681	3.3e-05	0	0	0	0	5.998e-05	0	0	3.88e-05	6	154602	rs190113136	2.873e-05	2.873e-05	2.995e-05	2.75e-05	3.478e-05	2.151e-05	1.908e-05	2.201e-05	1.942e-05	0	0	0	0	0	0	3.058e-05	8.279e-05	3.478e-05	3.283e-05	3.937e-05	2.57e-05	4.029e-05	0.0002	1.26e-05	7.97e-06	1.171e-05	6.25e-06	2.407e-05	0	0	0	0	0	0	4.41e-05	0	0.0002	0.167	0.23095	T	0.329	0.18617	T	0.114	0.26387	B	0.041	0.23986	B	0.000029	0.55875	D	0.000000	0.99573	0.42830	D	0.745	0.18958	N	-2.87	0.91478	D	-1.77	0.44094	N	0.116	0.10911	-0.2484	0.76403	T	0.533	0.82704	D	10	0.14062768	0.26729	T	0.046343	0.62414	D	0.242	0.54781	.	.	0.675221151223	0.67246	0.44273030258019885	0.44190	0.448473399191	0.44675	0.78806078434	0.80147	T	0.45339	0.79335	T	-0.0764515	0.40289	T	-0.16169	0.58200	T	0.155839695069368	0.17559	T	0.916108	0.70062	D	0.27198014	0.50268	0.18952228	0.42304	0.27198014	0.50268	0.18952228	0.42303	-4.67	0.33039	T	.	.	0.104	0.23077	B	.;.;.	.;.;.	3.067864	0.41228	21.3	0.98371675876868403	0.40760	0.88422	0.48343	D	AEFI	0.264110	0.38152	N	-0.204656148453699	0.32942	1.863424	-0.0233301592671784	0.38663	2.281137	9.2565625324299E-4	0.08013	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	4.64	0.57399	3.670000	0.54305	8.621000	0.77811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.6678:0.3322	11.265	0.48339	922	0.19044	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1654.43	34	chr14	41886911	.	G	A	1654.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.41;DP=423;ExcessHet=0;FS=1.515;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.32;SOR=0.865	GT:AD:DP:GQ:PL	0/1:50,61:111:99:1666,0,1228	9	0	1	0
chr14	49633744	49633744	C	T	exonic	DNAAF2	.	nonsynonymous SNV	DNAAF2:NM_001083908:exon1:c.G1406A:p.C469Y,DNAAF2:NM_018139:exon1:c.G1406A:p.C469Y	Ciliary dyskinesia, primary, 10	0	1439	78	5	0	88	0.0296696	.	.	.	222368	not_specified|Primary_ciliary_dyskinesia|not_provided|Primary_ciliary_dyskinesia_10	MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900|MONDO:MONDO:0012918,MedGen:C2675867,OMIM:612518,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.050	.	0.0048	0.0071885	0.0090	0.0012	0.0022	0	0.0111	0.0074	0.0079	0.0313	0.007225	1117	154602	rs150737854	0.0063	0.0063	0.0056	0.0070	0.0260	0.0062	0.0061	0.0251	0.0247	0.0005	0.0021	0.0098	5.063e-05	0.0077	0.0122	0.0052	0.0065	0.0260	0.0049	0.0049	0.0046	0.0053	0.0296	0.0046	0.0045	0.0257	0.0242	0.0008	0	0.0017	0.0107	0	0.0108	0.0204	0.0056	0.0061	0.0296	0.668	0.06606	T	0.086	0.41405	T	0.0	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	2.35	0.16217	T	-1.81	0.43149	N	0.097	0.09490	-0.9595	0.39274	T	0.008	0.02926	T	9	0.0032324195	0.00055	T	.	.	.	0.050	0.13987	.	.	0.0920862733494	0.08535	0.35599943241304355	0.35513	0.864262301777	0.69126	0.400492340326	0.25137	T	0.002222	0.01623	T	-0.708825	0.00032	T	-0.771358	0.02724	T	0.00361660849296668	0.00038	T	0.40306	0.12390	T	0.052102983	0.09669	0.13561133	0.32465	0.06224304	0.12978	0.13561133	0.32464	-5.743	0.44688	T	.	.	0.085	0.17827	B	.;.	.;.	0.204867	0.05893	2.332	0.78549104697280792	0.12349	0.02355	0.06716	N	AEFDGBHCI	0.100536	0.20212	N	-1.6742740473712	0.00937	0.04058094	-1.6234713818447	0.01518	0.06877383	0.99999999999542	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.77	0.702	0.17269	0.309000	0.19094	-0.505000	0.08779	-1.252000	0.01301	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2261:0.4659:0.1879:0.1201	1.895	0.03058	835	0.38313	PIH1 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	1	0	0.012097	0.000000	0.012228	0.005848	0.000000	0.008621	0.021472	0.034091	0.05	1165.43	37	chr14	49633744	.	C	T	1165.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.162;DP=464;ExcessHet=0;FS=1.52;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=1.64;SOR=0.853	GT:AD:DP:GQ:PL	0/1:56,52:108:99:1177,0,1325	9	0	1	0
chr14	50443957	50443957	C	G	exonic	MAP4K5	.	nonsynonymous SNV	MAP4K5:NM_006575:exon19:c.G1419C:p.K473N,MAP4K5:NM_198794:exon19:c.G1419C:p.K473N	.	431	1024	62	5	0	72	0.0339623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	.	0.0066	0.00539137	0.0140	0.0015	0.0161	0	0.0099	0.0169	0.0215	0.0192	0.0083958	1298	154602	rs35768475	0.0075	0.0075	0.0070	0.0080	0.0297	0.0074	0.0073	0.0261	0.0247	0.0011	0.0074	0.0311	5.063e-05	0.0052	0.0297	0.0068	0.0092	0.0142	0.0066	0.0067	0.0067	0.0066	0.0087	0.0063	0.0062	0.0081	0.0079	0.0013	0	0.0082	0.0276	0	0.0066	0.0272	0.0087	0.0147	0.0079	0.028	0.46129	D	0.174	0.30045	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999965	0.52935	D	.	.	.	-0.82	0.74053	T	-2.33	0.51646	N	0.299	0.33796	-0.2612	0.76055	T	0.422	0.76677	T	9	0.0042360723	0.00085	T	.	.	.	0.343	0.66488	0.419	0.46036	0.557661990297	0.55426	0.43804407463647294	0.43721	0.86124622319	0.68974	0.740895748138	0.73105	T	.	.	.	-0.425966	0.01569	T	-0.372971	0.36541	T	0.018003772233958	0.00525	T	0.891611	0.62654	D	0.33619976	0.55975	0.21171997	0.45611	0.33619976	0.55975	0.21171997	0.45610	-8.058	0.61465	D	.	.	0.605	0.69086	P	.	.	3.334347	0.45915	22.2	0.99806612893956281	0.89085	0.84800	0.43890	D	AEFBI	0.157098	0.28255	N	0.0455395370400721	0.43936	2.677043	0.0421915496554164	0.41695	2.509357	0.42880509924559	0.20353	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	2.67	0.30756	0.509000	0.22414	-0.199000	0.10963	0.599000	0.40250	1.000000	0.71638	0.245000	0.23879	1.000000	0.97212	0.0:0.6265:0.0:0.3735	8.648	0.33178	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024169	0.010101	0.023098	0.029240	0.000000	0.051724	0.033537	0.018939	0.05	678.43	33	chr14	50443957	.	C	G	678.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.453;DP=396;ExcessHet=0;FS=0.891;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-0.709;SOR=0.844	GT:AD:DP:GQ:PL	0/1:40,32:72:99:690,0,955	9	0	1	0
chr14	63599753	63599753	G	A	exonic	WDR89	.	stopgain	WDR89:NM_001258272:exon3:c.C190T:p.R64X,WDR89:NM_080666:exon3:c.C190T:p.R64X,WDR89:NM_001008726:exon4:c.C190T:p.R64X,WDR89:NM_001382423:exon4:c.C190T:p.R64X,WDR89:NM_001382424:exon4:c.C190T:p.R64X,WDR89:NM_001382425:exon4:c.C190T:p.R64X,WDR89:NM_001382426:exon4:c.C190T:p.R64X,WDR89:NM_001382427:exon4:c.C190T:p.R64X,WDR89:NM_001382428:exon5:c.C190T:p.R64X,WDR89:NM_001382429:exon5:c.C190T:p.R64X	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs200681506	8.895e-06	3.831e-05	1.225e-05	5.502e-06	2.319e-05	4.96e-06	3.83e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	5.396e-06	8.281e-05	2.319e-05	0.0002	0.0074	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0004	0	0	0.0003	0	0.0001	0.0015	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000463	0.44119	D	0.194702	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.144	0.27435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481121	0.93742	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive;.	High;.;High;.	7.339368	0.96413	36	0.99756467363359924	0.84694	0.94639	0.61825	D	AEFGBI	0.098617	0.19868	N	0.909272293390907	0.92206	11.29225	0.757728745137247	0.86734	8.984897	0.999972014400061	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.63	4.69	0.58546	2.909000	0.48456	5.651000	0.49183	-0.680000	0.04236	1.000000	0.71638	0.992000	0.31684	0.036000	0.13842	0.0:0.0:0.8692:0.1308	16.526	0.84179	854	0.34840	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing 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	.	.	.	.	.	.	.	.	0.05	91.43	51	chr14	63599753	.	G	A	91.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.77;DP=558;ExcessHet=0;FS=3.984;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.9;MQRankSum=-9.12;QD=0.52;ReadPosRankSum=-2.194;SOR=1.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,14:175:99:0|1:63599753_G_A:103,0,6624:63599753	9	0	1	0
chr14	64017617	64017617	A	G	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon34:c.A4910G:p.Y1637C,SYNE2:NM_182914:exon34:c.A4910G:p.Y1637C	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	7	1495	19	1	0	21	0.00697443	.	.	.	270391	Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant|not_provided	MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.070	0.0279470138198	0.0003	0.000798722	0.0004	0.0001	8.639e-05	0	0	0.0007	0	0.0005	0.0003816	59	154602	rs143578863	0.0003	0.0003	0.0003	0.0004	0.0108	0.0003	0.0003	0.0086	0.0079	0.0002	0.0001	0.0005	0	0	0.0108	0.0002	0.0008	0.0008	0.0003	0.0003	0.0004	0.0003	0.0008	0.0003	0.0002	0.0005	0.0004	4.811e-05	0	0.0008	0.0003	0	0	0.0102	0.0004	0.0014	0.0006	0.052	0.39097	T	0.003	0.76473	D	0.043	0.21573	B	0.035	0.22741	B	0.040195	0.24086	N	0.295883	1	0.81001	D	2.135	0.59519	M	1.35	0.59037	T	-4.23	0.78472	D	0.413	0.56489	-0.9620	0.38800	T	0.156	0.48738	T	10	0.02077666	0.00485	T	0.027947	0.50694	D	0.070	0.20419	.	.	0.433491693731	0.42969	0.2504348548407651	0.24957	0.0807992713291	0.09095	0.536102294922	0.43896	T	0.064025	0.69537	T	-0.28421	0.10226	T	-0.270179	0.47801	T	0.0706429236570103	0.08741	T	0.90371	0.66210	D	0.13872844	0.32073	0.16187179	0.37630	0.13872844	0.32073	0.16187179	0.37629	-5.54	0.42241	T	.	.	0.073	0.04847	B	.;.;.;.	.;.;.;.	3.286480	0.45050	22.1	0.9937110309557009	0.61455	0.92023	0.54774	D	AEFGBI	0.547919	0.56142	D	-0.18535108413049	0.33745	1.917921	-0.082959710859299	0.36094	2.096212	0.0527645248028014	0.14917	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.683762	0.67416	0	.	.	4.91	2.52	0.29514	4.703000	0.61511	5.264000	0.48131	0.750000	0.87069	1.000000	0.71638	0.997000	0.33255	0.994000	0.71098	0.792:0.0:0.0737:0.1343	6.853	0.23210	688	0.59122	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.010870	0.014620	0.000000	0.017241	0.012195	0.000000	0.05	585.43	35	chr14	64017617	.	A	G	585.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=365;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=0.99;SOR=0.711	GT:AD:DP:GQ:PL	0/1:32,25:57:99:597,0,775	9	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	.	.	.	.	.	.	.	.	0.5	2693.57	112	chr14	64158707	.	T	C	2693.57	.	AC=8;AF=0.5;AN=16;BaseQRankSum=-2.332;DP=1280;ExcessHet=10.3881;FS=229.843;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.563;MQ=60;MQRankSum=0;QD=2.74;ReadPosRankSum=1.66;SOR=11.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,41:135:99:0|1:64158707_T_C:534,0,2723:64158707	0	0	8	2
chr14	64158708	64158708	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876A:p.M5292I,SYNE2:NM_182914:exon86:c.G15876A:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2288662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00845025875398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.25304455	0.42666	T	0.00845	0.22357	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.2659272823830213	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102013	0.36092	T	-0.384311	0.35217	T	0.684482932090759	0.39994	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.504241	0.32334	19.01	0.96935941736678333	0.31676	0.86357	0.45621	D	AEFGBI	0.264582	0.38189	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	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	.	.	.	.	.	.	.	.	0.25	1706.15	87	chr14	64158708	.	G	A	1706.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.709;DP=980;ExcessHet=2.8389;FS=221.069;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.91;ReadPosRankSum=1.08;SOR=9.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,41:135:99:0|1:64158707_T_C:534,0,2723:64158707	5	0	5	0
chr14	73106040	73106040	C	T	exonic	RBM25	.	nonsynonymous SNV	RBM25:NM_021239:exon11:c.C1336T:p.L446F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0464962692576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.269	0.22426	T	0.998	0.73220	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.16	0.60381	M	0.88	0.46028	T	-2.02	0.46503	N	0.518	0.55193	-0.7655	0.57104	T	0.223	0.58703	T	10	0.46214104	0.59349	T	0.046496	0.62485	D	0.108	0.30607	0.377	0.39156	0.663738440163	0.66091	0.09319656364216099	0.09251	1.14376744994	0.79013	0.855810880661	0.90488	D	0.159106	0.50241	T	-0.0553563	0.43631	T	-0.317292	0.42871	T	0.850748300552368	0.50230	D	0.950805	0.81197	D	0.168968	0.37385	0.21357627	0.45873	0.168968	0.37385	0.21357627	0.45872	-10.76	0.78325	D	.	.	0.931	0.85082	P	.;.	.;.	4.020895	0.59386	24.1	0.9961543665055973	0.75052	0.96661	0.70270	D	AEFDBI	0.524343	0.54757	D	0.689022882425607	0.78914	6.968313	0.697428597593658	0.82181	7.704495	0.999999911178444	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	5.83	0.93059	2.246000	0.42794	5.913000	0.51050	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9309:0.0:0.0691	15.277	0.73445	746	0.52331	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	377.43	41	chr14	73106040	.	C	T	377.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=357;ExcessHet=0;FS=5.071;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.23;SOR=2.133	GT:AD:DP:GQ:PL	0/1:13,15:28:99:389,0,281	9	0	1	0
chr14	75071555	75071555	-	G	exonic	ZC2HC1C	.	frameshift insertion	ZC2HC1C:NM_001330191:exon2:c.983dupG:p.E329Gfs*8,ZC2HC1C:NM_024643:exon2:c.983dupG:p.E329Gfs*8	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.000998403	0.0024	0.0006	0.0020	0	0.0003	0.0038	0.0033	0.0005	0.0004226	11	26028	rs528262343	0.0040	0.0040	0.0041	0.0038	0.0090	0.0039	0.0039	0.0071	0.0064	0.0008	0.0023	0.0016	0	0.0002	0.0090	0.0047	0.0046	0.0007	0.0028	0.0028	0.0029	0.0028	0.0045	0.0026	0.0025	0.0041	0.0040	0.0010	0.0373	0.0017	0.0023	0.0002	0	0.0068	0.0045	0.0043	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004028	0.005051	0.004076	0.014620	0.000000	0.008621	0.000000	0.000000	0.05	1364.39	33	chr14	75071555	.	A	AG	1364.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.25;DP=450;ExcessHet=0;FS=0.761;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.527;SOR=0.573	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1376,0,1315	9	0	1	0
chr14	75766127	75766127	G	A	exonic	TTLL5	.	nonsynonymous SNV	TTLL5:NM_015072:exon20:c.G1774A:p.A592T	Cone-rod dystrophy 19, Autosomal recessive	418	1102	2	0	0	2	0.000906618	.	.	.	714247	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.063	.	0.0099	0.0101837	0.0031	0.0335	0.0015	0.0001	0	0.0001	0	0.0001	0.0029819	461	154602	rs11848004	0.0009	0.0009	0.0011	0.0008	0.0305	0.0009	0.0009	0.0289	0.0283	0.0305	0.0017	0	0.0008	0	0.0026	7.374e-05	0.0023	0.0002	0.0087	0.0087	0.0092	0.0081	0.0295	0.0083	0.0082	0.0282	0.0276	0.0295	0	0.0041	0	0.0002	0	0.0034	0.0002	0.0071	0.0004	0.048	0.40068	D	0.359	0.54934	T	0.003	0.17573	B	0.003	0.10090	B	0.783132	0.06666	N	1.101670	1	0.08975	N	0.345	0.11182	N	3.98	0.24285	T	-0.21	0.10308	N	0.161	0.16864	-0.9968	0.30810	T	0.009	0.03054	T	10	0.00203681	0.00029	T	.	.	.	0.063	0.18251	.	.	0.0401082797425	0.02173	0.33005609796141044	0.32918	0.0849823423278	0.09603	0.339076906443	0.16300	T	0.021317	0.16623	T	-0.607264	0.00132	T	-0.621384	0.11078	T	0.00303966947376642	0.00032	T	0.712529	0.32820	T	0.040848687	0.05909	0.04467737	0.05841	0.041153744	0.06007	0.046693716	0.06566	-3.346	0.15587	T	0.10699810034594848	0.08661	0.075	0.05447	B	.;.;.;.	.;.;.;.	2.139203	0.27237	17.39	0.92679610995283634	0.22164	0.10883	0.16259	N	AEFGBI	0.032184	0.03586	N	-1.04107915089277	0.07763	0.3617572	-1.00751978641718	0.09619	0.4796072	0.0070074684726847	0.11362	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	-0.337	0.12027	0.450000	0.21475	1.351000	0.25808	-0.130000	0.13190	0.000000	0.06391	0.001000	0.17328	0.992000	0.67800	0.2759:0.1524:0.2922:0.2795	0.238	0.00175	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	1	0	0	1	0	1	0	0.009063	0.005051	0.023098	0.005848	0.000000	0.017241	0.003049	0.000000	0.05	802.43	83	chr14	75766127	.	G	A	802.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.451;DP=500;ExcessHet=0;FS=1.687;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=0.767;SOR=0.82	GT:AD:DP:GQ:PL	0/1:53,39:92:99:814,0,1261	9	0	1	0
chr14	77027451	77027451	T	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6111	467.86	24	chr14	77027451	.	T	*	467.86	.	AC=11;AF=0.611;AN=18;DP=359;ExcessHet=5.3821;FS=3.352;InbreedingCoeff=-0.3867;MLEAC=12;MLEAF=0.667;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=0.339;SOR=0.49	GT:AD:DP:GQ:PL	0/1:16,4:20:99:120,0,619	0	2	7	1
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N,NRXN3:NM_001366425:exon4:c.G749A:p.S250N,NRXN3:NM_001366426:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	983.97	138	chr14	78297852	.	G	A	983.97	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-4.136;DP=1458;ExcessHet=7.0302;FS=257.196;InbreedingCoeff=-0.5388;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.164;SOR=12.28	GT:AD:DP:GQ:PL	0/1:110,45:163:80:80,0,1974	3	0	7	0
chr14	87947880	87947880	T	G	splicing	GALC	NM_000153:exon13:c.1339-2A>C;NM_001201402:exon13:c.1261-2A>C;NM_001201401:exon12:c.1270-2A>C	.	.	Krabbe disease, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.804	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.048355	0.96078	35	0.96312423662121505	0.29387	0.90279	0.51329	D	AEFBI	.	.	.	0.834703617961455	0.88221	9.49745	0.637691033602847	0.77695	6.729492	0.662390159466227	0.22285	0.088506	0.02282	0	0.096993	0.02736	0	0.060301	0.00762	0	0.057018	0.00518	0	0.774629	0.45842	6.11	3.66	0.41111	2.105000	0.41449	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.1223:0.0:0.127:0.7507	8.987	0.35161	920	0.19381	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	310.75	36	chr14	87947880	.	T	G	310.75	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-0.474;DP=295;ExcessHet=1.8123;FS=100.949;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=2.37;ReadPosRankSum=2.59;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:16,13:29:99:.:.:113,0,310:.	4	0	4	2
chr14	88438195	88438195	C	T	exonic	SPATA7	.	nonsynonymous SNV	SPATA7:NM_001040428:exon11:c.C1477T:p.P493S,SPATA7:NM_018418:exon12:c.C1573T:p.P525S	Leber congenital amaurosis 3;Retinitis pigmentosa, juvenile, autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00365222184078	.	.	0.0001	0	0	0	0	0	0.0011	0.0008	9.06e-05	14	154602	rs760844256	3.558e-05	3.557e-05	2.042e-05	5.089e-05	0.0006	2.763e-05	2.502e-05	0.0004	0.0004	0	0	0	0	0	0.0002	0	3.312e-05	0.0006	1.971e-05	1.969e-05	0	4.03e-05	0.0006	5.24e-06	2.45e-06	0.0002	9e-05	0	0	0	0	0	0	0	0	0	0.0006	0.175	0.22573	T	0.493	0.11443	T	0.001	0.12996	B	0.011	0.21540	B	0.904271	0.07375	N	1.046920	1	0.08975	N	1.485	0.37223	L	1.53	0.30401	T	-1.53	0.37178	N	0.072	0.04547	-0.9847	0.33903	T	0.069	0.28180	T	10	0.01880771	0.00413	T	0.003652	0.08402	T	0.016	0.02506	0.298	0.26362	0.0138822411134	0.00435	0.05320765538415912	0.05262	0.100799961701	0.11392	0.2187153548	0.01237	T	0.015529	0.13011	T	-0.586652	0.00176	T	-0.719667	0.04812	T	0.0115152468683125	0.00173	T	0.634936	0.24909	T	0.03187496	0.03108	0.048124388	0.07080	0.0295307	0.02463	0.04789521	0.06998	-2.196	0.04021	T	0.23378402149535496	0.31648	0.073	0.08705	B	.;.;.	.;.;.	0.362157	0.07350	3.965	0.77076310464863262	0.11727	0.09748	0.15434	N	AEFBCI	0.050663	0.08878	N	-0.945707660558781	0.09789	0.4648692	-0.958304183779755	0.10731	0.5423423	6.9750418609945E-5	0.04366	0.706298	0.61202	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.87	1.01	0.19044	-0.477000	0.06663	-0.040000	0.12681	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.633000	0.32236	0.0:0.5369:0.147:0.3161	5.325	0.15209	650	0.62973	.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	9438.43	33	chr14	88438195	.	C	T	9438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=1028;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=0.869;SOR=0.692	GT:AD:DP:GQ:PL	0/1:326,360:686:99:9450,0,8281	9	0	1	0
chr14	90872312	90872312	T	C	exonic	RPS6KA5	.	nonsynonymous SNV	RPS6KA5:NM_001322238:exon15:c.A1514G:p.K505R,RPS6KA5:NM_001322228:exon16:c.A2063G:p.K688R,RPS6KA5:NM_001322231:exon16:c.A1454G:p.K485R,RPS6KA5:NM_001322232:exon16:c.A1952G:p.K651R,RPS6KA5:NM_001322233:exon16:c.A2009G:p.K670R,RPS6KA5:NM_001322236:exon16:c.A2087G:p.K696R,RPS6KA5:NM_001322229:exon17:c.A2150G:p.K717R,RPS6KA5:NM_001322234:exon17:c.A1595G:p.K532R,RPS6KA5:NM_001322237:exon17:c.A1934G:p.K645R,RPS6KA5:NM_004755:exon17:c.A2171G:p.K724R,RPS6KA5:NM_001322227:exon18:c.A1328G:p.K443R,RPS6KA5:NM_001322230:exon18:c.A1370G:p.K457R,RPS6KA5:NM_001322235:exon18:c.A1934G:p.K645R	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.0232260334944	.	.	8.464e-06	0	0	0	0	0	0	6.475e-05	6.5e-06	1	154602	rs772100058	1.097e-05	1.163e-05	1.228e-05	9.646e-06	0.0009	6.49e-06	5.26e-06	0.0003	0.0002	0	0	0	0	0	0.0009	5.4e-06	6.648e-05	1.166e-05	1.316e-05	1.314e-05	2.573e-05	0	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.704	0.41950	P	0.065	0.27321	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0.805	0.20218	L	-0.29	0.67712	T	-0.37	0.13226	N	0.234	0.26354	-0.8518	0.51844	T	0.102	0.37819	T	10	0.16188607	0.30353	T	0.023226	0.46179	T	0.274	0.59007	0.381	0.39807	0.82122972629	0.81954	0.23293645579237665	0.23208	.	.	0.815565109253	0.84347	D	0.153362	0.49418	T	-0.0172034	0.49251	T	-0.161858	0.58184	T	0.123929281036057	0.14810	T	0.840516	0.51562	T	0.3931568	0.60255	0.28093156	0.54071	0.3931568	0.60255	0.28093156	0.54070	1.489	0.00121	T	.	.	0.080	0.13456	B	.;.	.;.	2.921819	0.38794	20.8	0.31854792575975299	0.01816	0.99538	0.97210	D	AEFDGBI	0.894514	0.83357	D	-0.0411481563159326	0.39999	2.36801	0.14025808035195	0.46629	2.905761	0.999999999998699	0.74766	0.615465	0.37627	0	0.601575	0.49859	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.25	5.25	0.73169	6.274000	0.72607	4.272000	0.42850	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:0.0:1.0	15.463	0.75110	702	0.57624	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002717	0.008772	0.000000	0.008621	0.000000	0.000000	0.05	567.43	41	chr14	90872312	.	T	C	567.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.889;DP=341;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=-1.36;SOR=0.663	GT:AD:DP:GQ:PL	0/1:15,23:38:99:579,0,365	9	0	1	0
chr14	91175972	91175972	G	A	exonic	DGLUCY	.	nonsynonymous SNV	DGLUCY:NM_001102368:exon7:c.G646A:p.G216R,DGLUCY:NM_001286471:exon7:c.G631A:p.G211R,DGLUCY:NM_001358310:exon7:c.G646A:p.G216R,DGLUCY:NM_001358311:exon7:c.G631A:p.G211R,DGLUCY:NM_001358312:exon7:c.G646A:p.G216R,DGLUCY:NM_024952:exon7:c.G631A:p.G211R,DGLUCY:NM_001102367:exon8:c.G631A:p.G211R,DGLUCY:NM_001102366:exon9:c.G631A:p.G211R,DGLUCY:NM_001102369:exon9:c.G595A:p.G199R,DGLUCY:NM_001286472:exon9:c.G646A:p.G216R,DGLUCY:NM_001286470:exon10:c.G646A:p.G216R	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.0967902212183	.	.	4.118e-05	9.61e-05	0	0	0	4.495e-05	0	6.056e-05	3.23e-05	5	154602	rs771553587	2.736e-05	2.736e-05	2.995e-05	2.475e-05	0.0003	2.063e-05	1.816e-05	6.092e-05	2.521e-05	0	4.472e-05	0	2.52e-05	0	0.0003	2.788e-05	4.968e-05	1.159e-05	2.629e-05	2.627e-05	1.285e-05	4.036e-05	4.827e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.145	0.33000	T	0.946	0.60036	P	0.324	0.49239	B	0.000001	0.84330	N	0.054486	0.998466	0.44953	D	.	.	.	0.12	0.61089	T	-6.76	0.93329	D	0.599	0.62273	-0.6779	0.61469	T	0.228	0.59321	T	10	0.69051486	0.71826	D	0.09679	0.76662	D	0.353	0.67418	0.758	0.88730	0.659394921938	0.65654	0.8623551779488942	0.86199	0.281392547589	0.30611	.	.	.	0.226358	0.77793	T	0.126977	0.67064	D	0.126145	0.78639	D	0.942121863365173	0.61602	D	0.755224	0.37818	T	0.5299377	0.68827	0.47011837	0.69272	0.5299377	0.68828	0.47011837	0.69273	-7.031	0.68051	T	.	.	0.210	0.46585	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.411814	0.30999	18.61	0.99826242525848052	0.90852	0.75428	0.36930	D	AEFDBI	0.097323	0.19631	N	0.0529384963321993	0.44276	2.704744	-0.0601148831241907	0.37056	2.164571	0.909126059300528	0.26303	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.06	3.24	0.36257	2.468000	0.44759	1.997000	0.30104	0.575000	0.29119	0.997000	0.40164	0.982000	0.30508	0.172000	0.21044	0.1642:0.0:0.8358:0.0	9.598	0.38749	904	0.23766	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.004076	0.008772	0.000000	0.008621	0.000000	0.000000	0.05	2333.43	85	chr14	91175972	.	G	A	2333.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=594;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=0.735;SOR=0.693	GT:AD:DP:GQ:PL	0/1:62,92:154:99:2345,0,1262	9	0	1	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	.	.	.	.	.	.	.	.	0.5	4095.04	116	chr14	94497802	.	C	T	4095.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.987;DP=1206;ExcessHet=22.563;FS=233.998;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.59;ReadPosRankSum=0.204;SOR=12.109	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,51:134:99:.:.:458,0,1412:.	0	0	10	0
chr14	94563775	94563775	G	A	exonic	SERPINA4	.	nonsynonymous SNV	SERPINA4:NM_001289032:exon2:c.G404A:p.R135H,SERPINA4:NM_001289033:exon2:c.G293A:p.R98H,SERPINA4:NM_006215:exon2:c.G293A:p.R98H	.	427	1094	1	0	0	1	0.00045683	.	.	.	3310928	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.276	0.150410418342	.	0.000199681	0.0002	9.764e-05	0	0	0.0003	0.0001	0.0011	0.0008	0.0002005	31	154602	rs201138033	0.0001	0.0001	0.0001	0.0001	0.0008	0.0001	0.0001	0.0007	0.0006	0	2.236e-05	7.652e-05	0	0.0002	0	9.442e-05	9.935e-05	0.0008	0.0001	0.0001	7.71e-05	0.0002	0.0006	7.573e-05	6.278e-05	0.0002	9.011e-05	2.406e-05	0	0	0.0003	0	0.0005	0	0.0001	0	0.0006	0.029	0.45756	D	0.165	0.30926	T	0.076	0.24253	B	0.02	0.19048	B	0.237406	0.03559	N	1.744850	1	0.08975	N	0.33	0.10399	N	-1.92	0.84773	D	-0.8	0.22078	N	0.028	0.00618	-0.5332	0.67420	T	0.423	0.76730	T	10	0.027003646	0.00855	T	0.15041	0.83210	D	0.276	0.59253	.	.	0.628863794302	0.62583	0.11248466010043547	0.11177	0.273123043664	0.29818	0.200810089707	0.00481	T	0.235139	0.60233	T	-0.421743	0.01668	T	-0.456568	0.26973	T	0.0750168487429619	0.09337	T	0.262774	0.04248	T	0.15437727	0.34945	0.065586284	0.13315	0.15437727	0.34945	0.065586284	0.13314	-3.333	0.14166	T	.	.	0.092	0.13362	B	.;.;.	.;.;.	0.740832	0.11100	7.750	0.64337870921716089	0.07466	0.01593	0.05177	N	AEFDBI	0.415812	0.48452	N	-1.29496000788605	0.03735	0.1674002	-1.48275867144057	0.02485	0.1143925	0.999985038763213	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.55458	0.18720	0	0.564101	0.26826	0	.	.	4.17	-8.32	0.00873	-0.371000	0.07569	-4.237000	0.02265	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.175:0.0:0.4158:0.4093	5.457	0.15894	846	0.36215	Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1949.43	41	chr14	94563775	.	G	A	1949.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.4;DP=492;ExcessHet=0;FS=10.507;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.075;SOR=0.476	GT:AD:DP:GQ:PL	0/1:70,70:140:99:1961,0,1654	9	0	1	0
chr14	96289721	96289721	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon41:c.C5941G:p.R1981G	.	431	1084	7	0	0	7	0.00321839	.	.	.	3208864	ATG2B-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.114	.	0.0012	0.00119808	0.0021	0.0004	0.0011	0	0.0104	0.0016	0.0066	0.0033	0.0020698	320	154602	rs144991946	0.0024	0.0024	0.0024	0.0024	0.0032	0.0024	0.0023	0.0029	0.0028	0.0005	0.0018	0.0005	0	0.0087	0.0028	0.0023	0.0022	0.0032	0.0021	0.0021	0.0017	0.0025	0.0035	0.0019	0.0018	0.0028	0.0025	0.0002	0	0.0035	0.0006	0	0.0101	0	0.0019	0.0005	0.0023	0.08	0.33585	T	0.121	0.35840	T	0.0	0.02946	B	0.005	0.11217	B	0.000001	0.62929	D	0.058207	0.999921	0.51308	D	1.43	0.35840	L	2.75	0.11622	T	-2.72	0.57920	D	0.396	0.43706	-1.1116	0.02936	T	0.040	0.17106	T	10	0.007583976	0.00172	T	.	.	.	0.114	0.32008	.	.	0.398581233421	0.39469	0.7671691129578191	0.76665	0.777994176172	0.65131	0.425886392593	0.28646	T	0.048592	0.28061	T	-0.461557	0.00961	T	-0.435642	0.29297	T	0.04595755763844	0.04775	T	0.889011	0.61998	D	0.33667102	0.56013	0.35855058	0.61329	0.33667102	0.56013	0.35855058	0.61329	-4.972	0.36534	T	.	.	0.103	0.18331	B	.	.	3.385098	0.46838	22.4	0.99566488855538415	0.72136	0.89926	0.50716	D	AEFDBCI	0.595472	0.59001	D	0.124274289793113	0.47597	2.98319	0.290115838148042	0.54959	3.659774	0.999965603444838	0.48965	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	5.564000	0.67060	9.834000	0.81880	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:1.0:0.0	19.546	0.95287	976	0.04745	Autophagy-related, 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	0	0	1	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	947.43	36	chr14	96289721	.	G	C	947.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=1.81;SOR=0.661	GT:AD:DP:GQ:PL	0/1:59,44:103:99:959,0,1274	9	0	1	0
chr14	102081741	102081741	C	T	exonic	HSP90AA1	.	nonsynonymous SNV	HSP90AA1:NM_005348:exon11:c.G2170A:p.D724N,HSP90AA1:NM_001017963:exon12:c.G2536A:p.D846N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.0561133232141	.	0.000199681	5.766e-05	0	0	0	0	0	0	0.0004	5.17e-05	8	154602	rs563025620	2.243e-05	3.216e-05	1.679e-05	2.809e-05	0.0003	1.623e-05	1.389e-05	0.0002	0.0002	0	0	0	0	0	0	6.481e-06	1.692e-05	0.0003	6.569e-06	6.563e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.103	0.44501	T	0.938	0.61523	P	0.745	0.55870	P	0.000000	0.84330	U	0.000000	1	0.81001	D	2.35	0.67516	M	2.94	0.09728	T	-0.98	0.36586	N	0.402	0.44283	-0.9297	0.44183	T	0.080	0.31705	T	10	0.19364935	0.35143	T	0.056113	0.66485	D	0.227	0.52620	0.436	0.48828	0.597248352152	0.59404	0.31242983485803016	0.31155	.	.	0.812716007233	0.83908	D	0.191822	0.54679	T	-0.371641	0.03512	T	-0.471289	0.25378	T	0.336618556582453	0.26489	T	0.89921	0.64678	D	0.7387323	0.80219	0.48543546	0.70216	0.7387323	0.80221	0.48543546	0.70217	-8.241	0.64217	D	.	.	0.541	0.75701	A	.;.	.;.	4.208147	0.63560	24.6	0.99914501770756137	0.98309	0.95244	0.63973	D	AEFDBCI	0.853170	0.77011	D	0.54861109201857	0.69998	5.437352	0.479157730596112	0.66610	4.974623	0.999999999999997	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.21	4.21	0.48984	5.603000	0.67304	2.152000	0.30918	0.376000	0.20365	1.000000	0.71638	0.973000	0.29867	0.786000	0.37147	0.0:1.0:0.0:0.0	16.930	0.86058	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	.	.	.	.	.	.	.	.	0.05	98.43	33	chr14	102081741	.	C	T	98.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.226;DP=440;ExcessHet=0;FS=49.053;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.86;ReadPosRankSum=0.56;SOR=6.09	GT:AD:DP:GQ:PL	0/1:33,20:53:99:110,0,445	9	0	1	0
chr14	103753181	103753181	C	T	exonic	PPP1R13B	.	nonsynonymous SNV	PPP1R13B:NM_015316:exon7:c.G647A:p.R216K	.	453	1066	3	0	0	3	0.00140515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00574671624079	.	0.000199681	0.0001	0.0001	0	0	0	4.497e-05	0	0.0005	9.7e-05	15	154602	rs546019557	0.0001	9.987e-05	7.365e-05	0.0001	0.0018	8.661e-05	8.149e-05	0.0009	0.0006	0	0	0	0	0	0.0018	6.748e-05	0.0002	0.0006	9.862e-05	9.847e-05	6.432e-05	0.0001	0.0012	6.01e-05	4.883e-05	0.0005	0.0004	0	0	6.541e-05	0	0	0	0	0.0001	0	0.0012	0.066	0.36113	T	0.23	0.25135	T	0.07	0.23866	B	0.027	0.21085	B	0.000016	0.62929	D	0.116084	0.955606	0.26328	N	0	0.06538	N	1.65	0.27650	T	-0.15	0.09297	N	0.304	0.34336	-1.0847	0.06462	T	0.048	0.20434	T	10	0.04164663	0.02839	T	0.005747	0.14922	T	0.050	0.13987	0.346	0.34112	0.448695639987	0.44491	0.06591541450552085	0.06530	0.404440091156	0.41344	0.402807980776	0.25460	T	0.140242	0.47468	T	-0.409457	0.02004	T	-0.483202	0.24106	T	0.0494841350301035	0.05409	T	0.952605	0.81930	D	0.07792357	0.17715	0.087557025	0.20360	0.07792357	0.17715	0.087557025	0.20359	-5.086	0.37759	T	.	.	0.115	0.25298	B	.;.	.;.	3.906063	0.56931	23.8	0.97075276532295884	0.32255	0.68209	0.33716	D	AEFDGBCI	0.349698	0.44340	N	0.0596569508014318	0.44587	2.730094	0.266131168522287	0.53573	3.525501	0.999999997061895	0.74766	0.730579	0.87903	0	0.633656	0.55848	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	5.74	5.74	0.90070	5.752000	0.68375	7.548000	0.60216	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.8037:0.0:0.1963	7.521	0.26797	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1264.43	36	chr14	103753181	.	C	T	1264.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.765;DP=383;ExcessHet=0;FS=5.216;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.81;ReadPosRankSum=-0.41;SOR=0.293	GT:AD:DP:GQ:PL	0/1:25,46:71:99:1276,0,600	9	0	1	0
chr14	104954210	104954210	A	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T941G:p.L314R,AHNAK2:NM_138420:exon7:c.T1241G:p.L414R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0033054467023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.19157	T	0.322	0.19016	T	0.059	0.23051	B	0.037	0.23121	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.22	0.02640	T	-0.78	0.21644	N	0.144	0.14480	-0.9040	0.47561	T	0.004	0.01330	T	9	0.064493835	0.08562	T	0.003305	0.07329	T	0.018	0.03083	0.331	0.31681	0.0297737177859	0.01360	0.32141904285636813	0.32054	.	.	0.219350218773	0.01273	T	0.022798	0.17514	T	-0.319046	0.06975	T	-0.696064	0.06043	T	0.0919362600325028	0.11445	T	0.259774	0.04142	T	0.06350937	0.13378	0.063300975	0.12517	0.06350937	0.13378	0.063300975	0.12517	-3.047	0.10696	T	.	.	0.076	0.06159	B	.	.	-0.819243	0.01069	0.047	0.84227161724152089	0.15169	0.01201	0.04282	N	AEFBI	.	.	.	-1.72819458600529	0.00746	0.03223131	-1.80533530045611	0.00742	0.0330801	0.802334429205407	0.24208	0.706548	0.73137	0	0.59043	0.45803	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.77	-7.85	0.01056	-0.999000	0.03808	-2.141000	0.04152	-0.797000	0.03199	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1038:0.1041:0.2031:0.589	4.537	0.11438	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	.	.	.	.	.	.	.	.	0.05	1179.43	85	chr14	104954210	.	A	C	1179.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.714;DP=704;ExcessHet=0;FS=0.681;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=1.42;SOR=0.744	GT:AD:DP:GQ:PL	0/1:69,52:121:99:1191,0,1965	9	0	1	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	330.53	38	chr15	20534613	.	C	*	330.53	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.318;DP=776;ExcessHet=7.0302;FS=3.819;InbreedingCoeff=-0.538;MLEAC=4;MLEAF=0.2;MQ=53.59;MQRankSum=0.13;QD=0.56;ReadPosRankSum=1.28;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,20:60:99:0|1:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:623,0,1513:20534604	6	0	4	0
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	492.44	26	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	*	492.44	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.2;DP=732;ExcessHet=4.5998;FS=5.412;InbreedingCoeff=-0.4286;MLEAC=4;MLEAF=0.2;MQ=51.5;MQRankSum=2.32;QD=1.26;ReadPosRankSum=0.05;SOR=0.951	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,20:60:99:0|1:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:623,0,1513:20534604	6	0	4	0
chr15	20534636	20534636	C	0	exonic	GOLGA6L6	.	.	.	.	491	642	369	8	12	397	0.230677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	140.44	26	chr15	20534636	.	C	*	140.44	.	AC=6;AF=0.3;AN=20;BaseQRankSum=0.554;DP=697;ExcessHet=7.0302;FS=2.644;InbreedingCoeff=-0.5385;MLEAC=6;MLEAF=0.3;MQ=52.8;MQRankSum=1.45;QD=0.34;ReadPosRankSum=-2.568;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,20:60:99:0|1:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:623,0,1513:20534604	4	0	6	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	0.95	18756.2	63	chr15	22081297	.	T	C	18756.2	.	AC=19;AF=0.95;AN=20;BaseQRankSum=7.91;DP=859;ExcessHet=0;FS=81.645;InbreedingCoeff=-0.0526;MLEAC=19;MLEAF=0.95;MQ=36.89;MQRankSum=-2.175;QD=23.98;ReadPosRankSum=1.65;SOR=5.13	GT:AD:DP:GQ:PL	1/1:0,16:16:48:510,48,0	0	9	1	0
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	875.01	40	chr15	23361381	.	G	*	875.01	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.008;DP=747;ExcessHet=2.8389;FS=0.56;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.2;MQ=56.36;MQRankSum=-0.579;QD=1.81;ReadPosRankSum=2.14;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,26:95:99:.:.:875,0,2807:.	6	0	4	0
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	812.66	40	chr15	23361385	.	C	*	812.66	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-0.366;DP=726;ExcessHet=2.8389;FS=2.674;InbreedingCoeff=-0.3793;MLEAC=4;MLEAF=0.222;MQ=56.82;MQRankSum=0.504;QD=1.8;ReadPosRankSum=2.9;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,26:92:99:.:.:897,0,1832:.	5	0	4	1
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14334.1	129	chr15	23440492	.	C	*	14334.1	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.467;DP=1215;ExcessHet=0;FS=0.964;InbreedingCoeff=-0.0526;MLEAC=10;MLEAF=0.5;MQ=58.42;MQRankSum=-0.924;QD=12.2;ReadPosRankSum=0.063;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,74:142:99:.:.:5073,2168,2618:.	0	0	10	0
chr15	28018477	28018477	G	A	exonic	OCA2	.	nonsynonymous SNV	OCA2:NM_000275:exon7:c.C727T:p.R243C,OCA2:NM_001300984:exon7:c.C727T:p.R243C	Albinism, brown oculocutaneous, Autosomal recessive;Albinism, oculocutaneous, type II, Autosomal recessive	1	1514	7	0	0	7	0.00230643	.	.	YES	195572	Oculocutaneous_albinism|OCA2-related_disorder|Tyrosinase-positive_oculocutaneous_albinism|SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES|not_provided	MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55|.|MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432|MedGen:C1856895,OMIM:227220|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.340	0.0173050794318	0.0003	0.000798722	0.0002	0.0001	0	0.0018	0	0.0001	0	0.0002	0.0002199	34	154602	rs138065338	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0007	0.0007	5.975e-05	2.236e-05	0.0007	0.0010	0	0.0003	9.983e-05	0.0003	0.0005	0.0002	0.0002	0.0002	0.0003	0.0033	0.0002	0.0002	0.0021	0.0017	0.0001	0	0	0.0003	0.0033	0	0	0.0002	0	0	0.056	0.38185	T	0.073	0.43159	T	0.989	0.62824	D	0.711	0.54536	P	0.114161	0.02667	N	1.825400	1	0.08975	N	2.075	0.57047	M	-0.13	0.64818	T	-2.15	0.72353	N	0.385	0.72656	-0.8932	0.48650	T	0.205	0.56348	T	10	0.01161772	0.00253	T	0.017305	0.38957	T	0.340	0.66202	.	.	0.765386357803	0.76324	0.49197367650237095	0.49118	0.297088945593	0.32091	0.33315590024	0.15410	T	0.35988	0.72621	T	-0.271774	0.11560	T	-0.166525	0.57760	T	0.0324763674663829	0.02384	T	0.843016	0.52334	T	0.07231753	0.16077	0.049056698	0.07418	0.07606457	0.17179	0.05845182	0.10804	-7.946	0.64944	D	0.1438428568785399	0.16385	0.147	0.32493	B	.;.;.	.;.;.	1.099568	0.14838	11.37	0.99015774081968766	0.50463	0.07462	0.13479	N	AEFDBHCI	0.162949	0.28918	N	-0.426422732119593	0.24547	1.326168	-0.587491222758173	0.19819	1.065051	0.0745892574368267	0.15670	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.98	1.98	0.25351	-0.077000	0.11356	0.579000	0.19686	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.0896:0.5005:0.4099:0.0	8.655	0.33219	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	1	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1514.43	34	chr15	28018477	.	G	A	1514.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.384;DP=424;ExcessHet=0;FS=1.546;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.308;SOR=0.575	GT:AD:DP:GQ:PL	0/1:46,65:111:99:1526,0,954	9	0	1	0
chr15	28702048	28702048	G	A	exonic	GOLGA8M	.	nonsynonymous SNV	GOLGA8M:NM_001282468:exon19:c.C1805T:p.P602L	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0205671	0.0072	0	0.1098	0.0286	0	0.0029	0.0192	0.0028	0.0062625	163	26028	rs199977584	0.0038	0.0037	0.0042	0.0033	0.0759	0.0037	0.0036	0.0737	0.0729	0.0024	0.0759	0.0042	0.0287	0.0001	0.0029	0.0003	0.0050	0.0013	0.0070	0.0071	0.0066	0.0074	0.0509	0.0066	0.0065	0.0479	0.0467	0.0020	0	0.0509	0.0043	0.0243	9.498e-05	0	0.0003	0.0144	0.0017	0.022	0.48642	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-6.16	0.90215	D	0.142	0.14196	.	.	.	.	.	.	.	0.0023910105	0.00035	T	.	.	.	.	.	.	.	.	.	0.09922984663501881	0.09853	1.27784336031	0.82451	.	.	.	0.072009	0.34349	T	-0.630248	0.00095	T	-0.625434	0.10763	T	.	.	.	0.865613	0.56501	D	0.16319054	0.36444	0.24243988	0.49664	0.16319054	0.36444	0.24243988	0.49663	-4.194	0.26665	T	.	.	0.156	0.34449	B	.	.	1.119733	0.15051	11.55	0.97242345669516506	0.33001	0.07330	0.13351	N	AEFI	0.036780	0.04956	N	.	.	.	.	.	.	1.27449074415292E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.798	-0.742	0.10548	1.222000	0.32119	2.775000	0.34697	0.222000	0.18087	0.975000	0.34726	0.732000	0.26423	0.001000	0.02609	0.0:0.0:0.4424:0.5576	3.524	0.07311	873	0.30802	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	703.43	33	chr15	28702048	.	G	A	703.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.987;DP=381;ExcessHet=0;FS=0.992;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=41.1;MQRankSum=-1.519;QD=11.72;ReadPosRankSum=-0.452;SOR=0.484	GT:AD:DP:GQ:PL	0/1:32,28:60:99:715,0,868	9	0	1	0
chr15	28703888	28703888	G	T	exonic	GOLGA8M	.	nonsynonymous SNV	GOLGA8M:NM_001282468:exon14:c.C1230A:p.N410K	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00132135544038	.	0.000998403	0.0003	0.0023	0	0	0	0.0002	0	0.0002	0.0002689	7	26028	rs371133877	0.0002	0.0004	0.0002	0.0002	0.0029	0.0001	0.0001	0.0024	0.0022	0.0029	0.0010	0	0.0004	0	0	5.778e-05	0.0003	8.233e-05	0.0018	0.0034	0.0020	0.0017	0.0061	0.0016	0.0016	0.0055	0.0053	0.0061	0	0.0008	0	0	0	0	0.0001	0.0019	0.0004	0.937	0.02212	T	0.423	0.13993	T	.	.	.	.	.	.	.	.	.	.	0.999966	0.18878	N	.	.	.	1.34	0.34841	T	-2.57	0.55501	D	0.239	0.26957	.	.	.	.	.	.	.	0.014233321	0.00300	T	0.001321	0.01860	T	.	.	.	.	0.19168177325	0.18762	0.4952960074218164	0.49450	0.560806340437	0.52599	.	.	.	0.013017	0.11335	T	-0.311209	0.07643	T	-0.684807	0.06695	T	.	.	.	0.665033	0.27384	T	0.12942488	0.30229	0.1278082	0.30759	0.12942488	0.30229	0.1278082	0.30759	-5.211	0.39054	T	.	.	0.153	0.33868	B	.	.	1.324601	0.17293	13.08	0.37083242066918581	0.02422	0.24686	0.22470	N	AEFCI	0.090307	0.18300	N	.	.	.	.	.	.	1.13572059652099E-6	0.01202	0.533608	0.22052	0	0.547309	0.14657	0	0.685742	0.62368	0	0.567892	0.33627	0	.	.	0.798	-0.22	0.12483	1.040000	0.29888	0.805000	0.21696	-0.925000	0.02178	0.845000	0.30364	0.999000	0.35428	0.005000	0.06747	0.2756:0.0:0.7244:0.0	4.213	0.09979	873	0.30802	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	72.43	32	chr15	28703888	.	G	T	72.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.28;DP=376;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=46.33;MQRankSum=-2.606;QD=1.54;ReadPosRankSum=2.74;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,5:47:84:0|1:28703888_G_T:84,0,1688:28703888	9	0	1	0
chr15	28703913	28703913	T	C	exonic	GOLGA8M	.	nonsynonymous SNV	GOLGA8M:NM_001282468:exon14:c.A1205G:p.H402R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000132706877648	.	0.000399361	0.0005	0.0010	0	0	0	0.0004	0	0.0006	0.0001035	16	154602	rs558926045	0.0003	0.0004	0.0003	0.0003	0.0006	0.0003	0.0003	0.0004	0.0003	0	0.0006	0	0.0001	0.0004	0	0.0004	0.0002	9.434e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	8.907e-05	0.0002	0.0002	2.489e-05	0	6.849e-05	0	0	0.0002	0	0.0003	0	0	0.57	0.06184	T	0.481	0.11864	T	.	.	.	.	.	.	.	.	.	.	0.999985	0.18198	N	.	.	.	2.24	0.17923	T	-1.84	0.43149	N	0.048	0.01999	.	.	.	.	.	.	.	0.014046043	0.00296	T	1.33E-4	0.00000	T	.	.	.	.	0.147330786459	0.14319	0.07797567335745229	0.07733	0.587679702723	0.54339	.	.	.	0.004825	0.04238	T	-0.544853	0.00313	T	-0.746121	0.03639	T	.	.	.	0.0241976	0.00146	T	0.042004336	0.06291	0.049024675	0.07404	0.042004336	0.06291	0.049024675	0.07403	-0.757	0.00767	T	.	.	0.068	0.02670	B	.	.	-0.573042	0.01647	0.115	0.46920825000869459	0.03796	0.03602	0.08830	N	AEFCI	0.036267	0.04805	N	.	.	.	.	.	.	1.11995154676138E-6	0.01202	0.533608	0.22052	0	0.588066	0.40923	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	0.798	-0.373	0.11893	-1.119000	0.03388	-2.185000	0.04088	-0.984000	0.01883	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.6299:0.0:0.3701	3.099	0.05940	873	0.30802	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	63.43	36	chr15	28703913	.	T	C	63.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.546;DP=384;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=47.55;MQRankSum=-2.698;QD=1.27;ReadPosRankSum=-0.647;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,5:50:75:0|1:28703888_G_T:75,0,1819:28703888	9	0	1	0
chr15	28843134	28843134	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G970A:p.E324K	.	524	965	30	3	0	36	0.0183113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1204083828	0.0003	0.0018	0.0002	0.0003	0.0013	0.0002	0.0002	0.0009	0.0008	0.0003	0.0010	0.0004	0.0013	0.0001	0.0003	0.0002	0.0004	0.0009	0.0009	0.0085	0.0007	0.0011	0.0017	0.0008	0.0007	0.0013	0.0012	0.0017	0	0.0012	0.0006	0.0011	0.0009	0	0.0005	0.0010	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054320782	0.05765	T	.	.	.	.	.	.	.	.	.	0.0796059710434255	0.07895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552145	0.19060	T	0.026396565	0.01691	0.06522381	0.13188	0.026396565	0.01691	0.06522381	0.13188	-7.191	0.55416	T	.	.	0.093	0.13969	B	.	.	0.927256	0.13022	9.528	0.40818859624842702	0.02905	0.00385	0.01942	N	AEFCI	.	.	.	.	.	.	.	.	.	2.69831305298825E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-2.618000	0.00953	-2.469000	0.03716	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0E-4:0.3485:0.6514:0.0	5.585	0.16554	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	.	.	.	.	.	.	.	.	0.1111	125.49	6	chr15	28843134	.	C	T	125.49	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-0.967;DP=83;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1478;MLEAC=2;MLEAF=0.111;MQ=52.36;MQRankSum=-0.967;QD=9.65;ReadPosRankSum=0.967;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:1|0:28843098_CCCCCATCTGCTCCTCCTGCTT_C:60,0,330:28843098	7	0	2	1
chr15	28843135	28843135	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G969T:p.Q323H	.	518	971	30	3	0	36	0.0182002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1233704262	0.0003	0.0018	0.0002	0.0004	0.0013	0.0003	0.0002	0.0009	0.0008	0.0004	0.0010	0.0005	0.0013	0.0002	0.0003	0.0002	0.0005	0.0008	0.0008	0.0084	0.0006	0.0010	0.0014	0.0007	0.0006	0.0011	0.0010	0.0014	0	0.0011	0.0003	0.0010	0.0009	0	0.0004	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09346208	0.16541	T	.	.	.	.	.	.	.	.	.	0.04198620401242224	0.04143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467153	0.13745	T	0.03609981	0.04375	0.057831366	0.10583	0.03609981	0.04374	0.057831366	0.10582	-9.024	0.67852	D	.	.	0.328	0.55089	B	.	.	1.202482	0.15947	12.21	0.53190382402369574	0.04891	0.05610	0.11516	N	AEFCI	.	.	.	.	.	.	.	.	.	1.60012443190448E-5	0.02871	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	0.047000	0.13941	0.456000	0.18569	0.356000	0.20028	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	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	.	.	.	.	.	.	.	.	0.1	124.83	8	chr15	28843135	.	C	A	124.83	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.967;DP=86;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1345;MLEAC=2;MLEAF=0.1;MQ=52.36;MQRankSum=-0.967;QD=9.6;ReadPosRankSum=0.967;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:1|0:28843098_CCCCCATCTGCTCCTCCTGCTT_C:60,0,330:28843098	8	0	2	0
chr15	28843142	28843142	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G962T:p.R321L	.	544	955	21	2	0	25	0.0129199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191857706	0.0001	0.0011	0.0001	0.0001	0.0010	9.584e-05	8.968e-05	0.0004	0.0003	0.0005	0.0005	0.0004	0.0005	7.934e-05	0.0010	6.784e-05	9.229e-05	0.0006	0.0007	0.0077	0.0006	0.0008	0.0012	0.0006	0.0005	0.0008	0.0007	0.0011	0	0.0012	0.0003	0.0006	0.0009	0	0.0004	0.0005	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076286405	0.11898	T	.	.	.	.	.	.	.	.	.	0.030957340557654735	0.03044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.668433	0.27736	T	0.075750865	0.17086	0.09239469	0.21771	0.075750865	0.17086	0.09239469	0.21771	-8.631	0.65293	D	.	.	0.105	0.19276	B	.	.	0.254151	0.06330	2.792	0.30357631313706235	0.01656	0.00529	0.02453	N	AEFCI	.	.	.	.	.	.	.	.	.	2.82397054557777E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-0.905000	0.04184	-6.198000	0.01467	-0.833000	0.02857	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3272:0.3435:0.3293:0.0	2.202	0.03687	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	.	.	.	.	.	.	.	.	0.1111	122.42	9	chr15	28843142	.	C	A	122.42	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-1.383;DP=89;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.145;MLEAC=2;MLEAF=0.111;MQ=52.94;MQRankSum=-1.013;QD=8.74;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:1|0:28843098_CCCCCATCTGCTCCTCCTGCTT_C:60,0,330:28843098	7	0	2	1
chr15	28843145	28843145	A	G	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.T959C:p.M320T	.	552	948	20	2	0	24	0.0125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394968721	9.032e-05	0.0009	8.61e-05	9.487e-05	0.0005	7.569e-05	6.959e-05	0.0003	0.0003	0.0002	0.0004	0.0003	0.0004	3.904e-05	0.0003	5.774e-05	6.833e-05	0.0005	0.0006	0.0071	0.0004	0.0007	0.0009	0.0005	0.0004	0.0006	0.0005	0.0009	0	0.0009	0.0003	0.0006	0.0006	0	0.0003	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06346178	0.08270	T	.	.	.	.	.	.	.	.	.	0.027028037523204537	0.02652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80032	0.44603	T	0.06259258	0.13090	0.20706734	0.44950	0.06259258	0.13089	0.20706734	0.44949	-8.92	0.67181	D	.	.	0.373	0.57993	A	.	.	1.332190	0.17377	13.13	0.13608050232526028	0.00274	0.00806	0.03275	N	AEFCI	.	.	.	.	.	.	.	.	.	2.99479300498238E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-3.140000	0.00647	-2.879000	0.03269	-0.682000	0.04210	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3434:0.327:0.0:0.3296	1.454	0.02237	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	.	.	.	.	.	.	.	.	0.1	122.16	10	chr15	28843145	.	A	G	122.16	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.383;DP=91;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1408;MLEAC=2;MLEAF=0.1;MQ=52.94;MQRankSum=-1.013;QD=8.73;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:1|0:28843098_CCCCCATCTGCTCCTCCTGCTT_C:60,0,330:28843098	8	0	2	0
chr15	28843152	28843152	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G952A:p.E318K	.	596	905	19	2	0	23	0.0125477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175861085	8.072e-05	0.0008	7.323e-05	8.88e-05	0.0005	6.676e-05	6.15e-05	0.0003	0.0002	0.0005	0.0004	0.0002	0.0005	3.946e-05	0	4.87e-05	2.315e-05	0.0004	0.0005	0.0063	0.0004	0.0005	0.0008	0.0004	0.0004	0.0005	0.0005	0.0008	0	0.0008	0	0.0004	0.0006	0	0.0003	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084602505	0.14197	T	.	.	.	.	.	.	.	.	.	0.03870546161705601	0.03816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.807219	0.45710	T	0.022809826	0.00971	0.063979626	0.12754	0.022809826	0.00970	0.063979626	0.12754	-7.409	0.56968	T	.	.	0.076	0.05756	B	.	.	0.240593	0.06208	2.659	0.69185045974801285	0.08892	0.00371	0.01888	N	AEFCI	.	.	.	.	.	.	.	.	.	1.10080633485978E-4	0.05123	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-0.998000	0.03812	-7.625000	0.01118	-2.765000	0.00194	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2626:0.7373:0.0	7.994	0.29417	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	.	.	.	.	.	.	.	.	0.1	121.31	10	chr15	28843152	.	C	T	121.31	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.383;DP=91;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1187;MLEAC=2;MLEAF=0.1;MQ=52.94;MQRankSum=-1.013;QD=8.67;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:1|0:28843098_CCCCCATCTGCTCCTCCTGCTT_C:60,0,330:28843098	8	0	2	0
chr15	28843155	28843155	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G949A:p.E317K	.	579	922	19	2	0	23	0.0123192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394768048	6.115e-05	0.0006	5.529e-05	6.746e-05	0.0004	4.9e-05	4.459e-05	0.0002	0.0002	0.0002	0.0003	0.0001	0.0004	3.914e-05	0	3.656e-05	2.32e-05	0.0004	0.0004	0.0056	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0007	0	0.0004	0.0005	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0684565	0.09684	T	.	.	.	.	.	.	.	.	.	0.08560220995357702	0.08494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.810419	0.46176	T	0.02553128	0.01501	0.06522381	0.13188	0.02553128	0.01501	0.06522381	0.13188	-6.82	0.52708	T	.	.	0.104	0.18910	B	.	.	1.353607	0.17613	13.27	0.35185701157618721	0.02194	0.00170	0.01006	N	AEFCI	.	.	.	.	.	.	.	.	.	2.25599673312757E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-3.903000	0.00381	-5.980000	0.01533	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6504:0.3496:1.0E-4	5.503	0.16129	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	.	.	.	.	.	.	.	.	0.1	118.27	10	chr15	28843155	.	C	T	118.27	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.383;DP=92;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1171;MLEAC=2;MLEAF=0.1;MQ=53.44;MQRankSum=-1.139;QD=7.88;ReadPosRankSum=1.38;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:1|0:28843098_CCCCCATCTGCTCCTCCTGCTT_C:57,0,372:28843098	8	0	2	0
chr15	28843163	28843163	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G941T:p.R314L	.	591	916	13	2	0	17	0.00919416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327731859	3.966e-05	0.0004	3.146e-05	4.845e-05	0.0002	2.969e-05	2.606e-05	0.0001	7.171e-05	0	0.0002	0	0.0002	3.955e-05	0	2.931e-05	0	0.0002	0.0004	0.0038	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	0.0006	0	0.0004	0	0	0.0005	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10313755	0.18943	T	.	.	.	.	.	.	.	.	.	0.02523710072021684	0.02474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585041	0.21304	T	0.082116276	0.18901	0.11121759	0.26827	0.082116276	0.18901	0.11121759	0.26826	-7.835	0.59940	D	.	.	0.121	0.25265	B	.	.	0.795957	0.11666	8.248	0.52257582194253571	0.04714	0.01916	0.05858	N	AEFCI	.	.	.	.	.	.	.	.	.	1.98083583576756E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	-0.605000	0.05757	-6.332000	0.01428	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	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	.	.	.	.	.	.	.	.	0.1	118.16	12	chr15	28843163	.	C	A	118.16	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.383;DP=94;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1122;MLEAC=2;MLEAF=0.1;MQ=53.44;MQRankSum=-1.139;QD=7.88;ReadPosRankSum=0;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:1|0:28843098_CCCCCATCTGCTCCTCCTGCTT_C:57,0,372:28843098	8	0	2	0
chr15	28843173	28843173	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G931A:p.E311K	.	623	889	10	0	0	10	0.00559284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1323313614	5.055e-05	0.0003	2.771e-05	7.401e-05	0.0004	3.699e-05	3.282e-05	0.0002	0.0001	0	0.0004	0	0.0002	0	0	2.832e-05	3.097e-05	0.0004	0.0003	0.0025	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	0.0004	0	0	0.0002	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07834345	0.12474	T	.	.	.	.	.	.	.	.	.	0.030977101992109582	0.03046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.728627	0.34357	T	0.024559313	0.01299	0.06746355	0.13960	0.024559313	0.01299	0.06746355	0.13960	-7.453	0.57279	T	.	.	0.085	0.10256	B	.	.	0.758504	0.11281	7.908	0.45310543330938985	0.03547	0.00741	0.03094	N	AEFCI	.	.	.	.	.	.	.	.	.	1.60012443190448E-5	0.02871	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	-2.407000	0.01121	-8.590000	0.00945	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	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	.	.	.	.	.	.	.	.	0.1	118.18	12	chr15	28843173	.	C	T	118.18	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.501;DP=97;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1131;MLEAC=2;MLEAF=0.1;MQ=53.44;MQRankSum=-1.013;QD=7.88;ReadPosRankSum=0.674;SOR=0.33	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:1|0:28843098_CCCCCATCTGCTCCTCCTGCTT_C:60,0,330:28843098	8	0	2	0
chr15	29716723	29716723	G	C	exonic	TJP1	.	nonsynonymous SNV	TJP1:NM_001355015:exon22:c.C3850G:p.R1284G,TJP1:NM_175610:exon22:c.C3850G:p.R1284G,TJP1:NM_001301026:exon23:c.C3862G:p.R1288G,TJP1:NM_001330239:exon23:c.C4090G:p.R1364G,TJP1:NM_001355013:exon23:c.C4102G:p.R1368G,TJP1:NM_001355014:exon23:c.C4090G:p.R1364G,TJP1:NM_003257:exon23:c.C4090G:p.R1364G,TJP1:NM_001301025:exon24:c.C4369G:p.R1457G,TJP1:NM_001355012:exon24:c.C4369G:p.R1457G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0826416661599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.013	0.63109	D	0.997	0.90584	D	0.946	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.59	0.40313	L	0.01	0.62459	T	-2.31	0.55662	N	0.776	0.89577	-0.1844	0.78069	T	0.418	0.76401	T	10	0.71460915	0.73264	D	0.082642	0.73944	D	0.254	0.56428	0.319	0.29741	0.289027227714	0.28505	0.4683811127177624	0.46757	0.44186153919	0.44170	0.592445909977	0.51839	T	0.29711	0.66972	T	0.292489	0.82360	D	0.182364	0.82133	D	0.92793083190918	0.59109	D	0.90061	0.84537	D	0.41680294	0.61879	0.47058052	0.69300	0.41680294	0.61879	0.47058052	0.69301	-7.079	0.56536	T	.	.	0.763	0.88816	P	.;.;.;.;.	.;.;.;.;.	3.710628	0.52968	23.3	0.99919080554750483	0.98586	0.99503	0.96817	D	AEFBI	0.871577	0.79305	D	0.783905125693724	0.85088	8.473256	0.775465812209368	0.88042	9.435727	0.999999930184291	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.97	5.03	0.67015	5.274000	0.65380	4.442000	0.43389	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8698:0.1302	16.660	0.85097	974	0.05496	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	605.43	39	chr15	29716723	.	G	C	605.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.64;DP=407;ExcessHet=0;FS=5.411;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=0.569;SOR=1.329	GT:AD:DP:GQ:PL	0/1:31,25:56:99:617,0,709	9	0	1	0
chr15	30608747	30608747	G	C	exonic	GOLGA8H;GOLGA8N;GOLGA8T	.	nonsynonymous SNV	GOLGA8H:NM_001282490:exon8:c.G582C:p.K194N,GOLGA8T:NM_001355469:exon8:c.G582C:p.K194N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00498358048796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0019	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0006	2.753e-05	0.0002	0.0001	0	0.0005	0.0009	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.18	0.29442	T	.	.	.	.	.	.	.	.	.	.	0.993723	0.23659	N	2.48	0.72069	M	1.9	0.23486	T	-1.96	0.45404	N	0.121	0.11197	.	.	.	.	.	.	.	0.13650501	0.25972	T	0.004984	0.12566	T	.	.	.	.	0.207176502487	0.20327	0.05885526678583752	0.05826	0.0158059045702	0.01510	.	.	.	0.009285	0.08464	T	-0.296489	0.08995	T	-0.663663	0.08021	T	.	.	.	0.60444	0.22695	T	0.12715618	0.29764	0.0855234	0.19753	0.12715618	0.29764	0.0855234	0.19752	-4.597	0.32134	T	.	.	0.218	0.44758	B	.	.	0.790856	0.11611	8.201	0.9625796049736377	0.29205	0.07789	0.13786	N	AEFI	0.085690	0.17372	N	.	.	.	.	.	.	2.14335074800116E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	-0.042000	0.12016	0.273000	0.16680	0.000000	0.17513	0.681000	0.28448	0.051000	0.21832	0.010000	0.09038	6.0E-4:0.0:0.9994:0.0	5.935	0.18398	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	.	.	.	.	.	.	.	.	0.05	30.44	93	chr15	30608747	.	G	C	30.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.983;DP=632;ExcessHet=0;FS=63.151;InbreedingCoeff=-0.0533;MLEAC=1;MLEAF=0.05;MQ=47.07;MQRankSum=-1.848;QD=0.27;ReadPosRankSum=1.64;SOR=6.357	GT:AD:DP:GQ:PL	0/1:99,15:122:42:42,0,3803	9	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	.	.	.	.	.	.	.	.	0.375	282.94	81	chr15	33066576	.	A	G	282.94	.	AC=3;AF=0.375;AN=8;BaseQRankSum=0.393;DP=793;ExcessHet=0.7463;FS=134.716;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=0.803;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,7:81:72:0|1:33066574_C_T:72,0,3028:33066574	1	0	3	6
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	.	.	.	.	.	.	.	.	0.375	498.01	74	chr15	33066577	.	C	G	498.01	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-1.258;DP=776;ExcessHet=0.7463;FS=182.948;InbreedingCoeff=-0.4302;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=1.99;ReadPosRankSum=0.966;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,7:81:72:0|1:33066574_C_T:72,0,3048:33066574	1	0	3	6
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	.	.	.	.	.	.	.	.	0.1429	182.24	83	chr15	33066579	.	C	G	182.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.471;DP=786;ExcessHet=0.2348;FS=86.775;InbreedingCoeff=-0.2121;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=1.8;SOR=5.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,7:83:66:0|1:33066574_C_T:66,0,3091:33066574	5	0	2	3
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	.	.	.	.	.	.	.	.	0.2	406.82	74	chr15	33066580	.	C	G	406.82	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.992;DP=746;ExcessHet=0.2348;FS=135.913;InbreedingCoeff=-0.2903;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=2.59;ReadPosRankSum=1.37;SOR=6.356	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,7:83:66:0|1:33066574_C_T:66,0,3091:33066574	3	0	2	5
chr15	33066583	33066583	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1302C:p.E434D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0174432321193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.252	0.29056	T	0.724	0.62824	P	0.292	0.58300	B	0.000000	0.84330	D	0.049723	.	.	.	.	.	.	1.03	0.48142	T	-0.87	0.23590	N	0.263	0.29774	-0.6821	0.61275	T	0.170	0.51052	T	8	0.18176183	0.33423	T	0.017443	0.39139	T	0.205	0.49236	0.196	0.10839	0.633120732306	0.63011	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.101551	0.36169	T	-0.383648	0.35295	T	0.987011551856995	0.77596	D	.	.	.	.	.	.	.	.	.	.	.	-7.933	0.60613	D	.	.	0.457	0.69267	A	.;.	.;.	1.631232	0.20829	14.93	0.99234608538238822	0.56342	0.62108	0.31682	D	AEFBCI	0.207444	0.33361	N	0.193011064254835	0.50863	3.272384	0.226642513300989	0.51332	3.316546	0.999944989826091	0.47345	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	0.147000	0.16021	1.800000	0.28874	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.964000	0.52637	0.0:0.7464:0.0:0.2536	10.665	0.44923	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	153.72	83	chr15	33066583	.	C	G	153.72	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-2.454;DP=805;ExcessHet=0.2348;FS=82.843;InbreedingCoeff=-0.1766;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=1.92;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,6:77:38:0|1:33066574_C_T:38,0,2923:33066574	6	0	2	2
chr15	34236018	34236018	C	T	exonic	SLC12A6	.	nonsynonymous SNV	SLC12A6:NM_001042497:exon22:c.G3179A:p.R1060H,SLC12A6:NM_005135:exon23:c.G3071A:p.R1024H,SLC12A6:NM_133647:exon23:c.G3224A:p.R1075H,SLC12A6:NM_001042494:exon24:c.G3047A:p.R1016H,SLC12A6:NM_001042495:exon24:c.G3047A:p.R1016H,SLC12A6:NM_001042496:exon24:c.G3197A:p.R1066H,SLC12A6:NM_001365088:exon24:c.G3224A:p.R1075H	Agenesis of the corpus callosum with peripheral neuropathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.0631098167343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.793e-06	4.788e-06	5.451e-06	4.129e-06	2.992e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	2.992e-05	0	0	0	0	0	5.402e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.007	0.69154	D	0.987	0.66517	D	0.703	0.54683	P	0.000004	0.62929	N	0.055638	0.999999	0.58761	D	2.085	0.57729	M	0.73	0.50721	T	-2.36	0.52128	N	0.23	0.34981	-0.7012	0.60381	T	0.208	0.56785	T	10	0.21460304	0.37988	T	0.06311	0.68866	D	0.236	0.53931	0.434	0.48500	0.345684270296	0.34182	0.6566801924849096	0.65604	1.85388991928	0.92312	0.527407765388	0.42670	T	0.791813	0.94599	D	0.0567883	0.59209	T	-0.156204	0.58692	T	0.893995457763778	0.54531	D	0.980602	0.93381	D	0.30820328	0.53630	0.29619	0.55651	0.30820328	0.53630	0.29619	0.55650	-8.032	0.61288	D	.	.	0.257	0.54049	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.359634	0.89882	31	0.99947459260676075	0.99913	0.78798	0.38932	D	AEFBI	0.262182	0.37998	N	0.477024221568081	0.65751	4.86203	0.506057459403517	0.68398	5.214432	0.999770109835535	0.42865	0.706548	0.73137	0	0.702456	0.74545	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	2.630000	0.46160	4.942000	0.46218	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.064	0.89312	820	0.40914	.;.;SLC12A transporter, C-terminal;SLC12A transporter, C-terminal;SLC12A transporter, C-terminal;SLC12A transporter, C-terminal;.;SLC12A transporter, 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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1599.43	35	chr15	34236018	.	C	T	1599.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.628;DP=436;ExcessHet=0;FS=1.492;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.975;SOR=0.56	GT:AD:DP:GQ:PL	0/1:54,64:118:99:1611,0,1345	9	0	1	0
chr15	42417393	42417393	G	A	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001381998:exon20:c.C3079T:p.L1027F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.26e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs766932726	6.857e-07	1.368e-06	0	1.378e-06	9.015e-07	0	0	.	.	0	0	0	0	0	0	9.015e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	444.47	69	chr15	42417393	.	G	A	444.47	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-1.36;DP=504;ExcessHet=1.5895;FS=199.83;InbreedingCoeff=-0.3005;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=2.18;ReadPosRankSum=1.27;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,9:41:83:.:.:295,0,1016:.	7	0	2	1
chr15	48748599	48748599	C	A	exonic	CEP152	.	nonsynonymous SNV	CEP152:NM_001194998:exon22:c.G3478T:p.V1160F	Microcephaly 9, primary, autosomal recessive, Autosomal recessive;Seckel syndrome 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0101119350392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.509e-07	1.368e-06	0	1.529e-06	9.479e-07	0	0	.	.	0	0	0	0	0	0	9.479e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.41096	T	0.623	0.07368	T	0.091	0.25247	B	0.021	0.19346	B	0.646690	0.10550	N	0.848589	1	0.18198	N	0.895	0.22405	L	0.64	0.52867	T	-0.61	0.18042	N	0.264	0.29889	-1.0183	0.24269	T	0.054	0.22883	T	10	0.04692051	0.03944	T	0.010112	0.26258	T	0.024	0.04979	0.234	0.16305	0.390060412749	0.38622	0.08714853187139297	0.08647	0.0819487672985	0.09232	0.376524806023	0.21763	T	0.003594	0.03000	T	-0.224472	0.17386	T	-0.560215	0.16357	T	0.0327178463339806	0.02425	T	0.589041	0.21605	T	0.06872375	0.14997	0.06911195	0.14521	0.06872375	0.14997	0.06911195	0.14521	-4.783	0.35031	T	0.09612726283683803	0.06619	0.086	0.10545	B	.;.	.;.	1.887381	0.23973	16.22	0.83537516548797763	0.14780	0.07638	0.13646	N	AEFGBI	0.077008	0.15505	N	-0.908672374004721	0.10638	0.5093274	-0.773078385314749	0.15157	0.796	0.994033935667338	0.33459	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.55	0.533	0.16315	-0.027000	0.12319	0.205000	0.15895	-0.117000	0.14459	0.010000	0.18352	0.001000	0.17328	0.998000	0.85391	0.0:0.2741:0.1257:0.6003	6.201	0.19789	258	0.89879	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	562.43	33	chr15	48748599	.	C	A	562.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.34;DP=348;ExcessHet=0;FS=1.317;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=1.93;SOR=0.446	GT:AD:DP:GQ:PL	0/1:20,22:42:99:574,0,546	9	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	.	.	.	.	.	.	.	.	0.4	593.56	70	chr15	51480616	.	G	C	593.56	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-4.018;DP=832;ExcessHet=1.5895;FS=461.254;InbreedingCoeff=-0.4816;MLEAC=6;MLEAF=0.6;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=1.28;SOR=10.188	GT:AD:DP:GQ:PL	0/1:90,42:132:99:112,0,1847	1	0	4	5
chr15	55360892	55360892	A	T	exonic	CCPG1	.	nonsynonymous SNV	CCPG1:NM_001204450:exon8:c.T881A:p.M294K,CCPG1:NM_001204451:exon8:c.T881A:p.M294K,CCPG1:NM_004748:exon8:c.T881A:p.M294K,CCPG1:NM_020739:exon8:c.T881A:p.M294K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00439839178792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	0.09209	T	0.959	0.14369	T	0.003	0.19406	B	0.002	0.16012	B	0.825667	0.09145	N	0.935559	1	0.08975	N	1.115	0.28702	L	3.97	0.28189	T	-0.4	0.40850	N	0.162	0.31365	-0.9645	0.38310	T	0.046	0.19599	T	10	0.0291166	0.01040	T	0.004398	0.10749	T	0.046	0.12618	0.266	0.21261	0.117191471859	0.11215	0.13870746392546698	0.13793	0.227799887911	0.25335	0.291034936905	0.09073	T	0.002284	0.01681	T	-0.216464	0.18478	T	-0.548712	0.17449	T	0.0389845632016659	0.03507	T	0.719228	0.35895	T	0.1400655	0.32331	0.10353237	0.24844	0.1400655	0.32330	0.10353237	0.24843	-1.292	0.01419	T	.	.	0.105	0.21277	B	.;.;.;.	.;.;.;.	0.522917	0.08917	5.697	0.85475273156736431	0.15916	0.14896	0.18641	N	AEFBI	0.169903	0.29677	N	-0.726865578646324	0.15269	0.768049	-0.612301144503623	0.19177	1.027746	0.995152031915438	0.33979	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.677038	0.66255	0	.	.	5.72	3.39	0.37919	0.639000	0.24378	2.254000	0.31710	0.756000	0.94297	0.090000	0.22578	0.119000	0.22882	0.998000	0.85391	0.6983:0.0:0.1548:0.1469	4.681	0.12119	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	.	.	.	.	.	.	.	.	0.05	839.43	41	chr15	55360892	.	A	T	839.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=443;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-0.328;SOR=0.593	GT:AD:DP:GQ:PL	0/1:44,34:78:99:851,0,1129	9	0	1	0
chr15	55672580	55672580	C	G	exonic	PRTG	.	nonsynonymous SNV	PRTG:NM_173814:exon11:c.G1906C:p.V636L	.	437	1080	5	0	0	5	0.00230947	.	.	.	703259	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.085	.	0.0075	0.00239617	0.0072	0.0017	0.0056	0.0001	0.0148	0.0097	0.0078	0.0022	0.0068175	1054	154602	rs149494002	0.0087	0.0087	0.0088	0.0085	0.0098	0.0085	0.0085	0.0096	0.0096	0.0016	0.0043	0.0004	5.039e-05	0.0143	0.0014	0.0098	0.0082	0.0027	0.0062	0.0062	0.0064	0.0060	0.0095	0.0059	0.0057	0.0089	0.0087	0.0018	0	0.0033	0.0006	0	0.0135	0.0068	0.0095	0.0038	0.0023	0.113	0.28772	T	0.276	0.22359	T	0.071	0.23930	B	0.038	0.23361	B	0.002061	0.37364	N	0.232951	0.999854	0.49910	D	1.82	0.47800	L	1.96	0.22270	T	-1.6	0.46842	N	0.587	0.60749	-1.1330	0.01644	T	0.040	0.17277	T	10	0.006695509	0.00152	T	.	.	.	0.085	0.24743	0.507	0.60232	0.342631996419	0.33872	0.6183329705583821	0.61766	0.160112996357	0.18061	0.612492501736	0.54668	T	0.065569	0.32721	T	-0.337909	0.05535	T	-0.251053	0.49714	T	0.00679731370280906	0.00077	T	0.869313	0.57326	D	0.1595642	0.35837	0.17360745	0.39699	0.1595642	0.35836	0.17360745	0.39698	-7.412	0.56989	T	.	.	0.341	0.55978	A	.;.	.;.	3.719838	0.53147	23.3	0.99247667342241963	0.56759	0.98198	0.80457	D	AEFBI	0.650962	0.62488	D	0.0629097893960828	0.44739	2.742448	0.232147999281446	0.51640	3.344773	0.997794014938111	0.36039	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.62	5.62	0.85714	4.661000	0.61213	7.659000	0.64126	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0:1.0:0.0:0.0	18.678	0.91497	596	0.68392	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	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	0.000000	0.003788	0.05	1009.43	34	chr15	55672580	.	C	G	1009.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.909;DP=391;ExcessHet=0;FS=2.144;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.657;SOR=1.112	GT:AD:DP:GQ:PL	0/1:35,38:73:99:1021,0,883	9	0	1	0
chr15	65055125	65055125	A	T	exonic	RASL12	.	nonsynonymous SNV	RASL12:NM_001307930:exon4:c.T518A:p.L173Q,RASL12:NM_001379429:exon5:c.T542A:p.L181Q,RASL12:NM_016563:exon5:c.T575A:p.L192Q	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.0703641658166	.	.	1.965e-05	0	0	0	0	3.603e-05	0	0	1.29e-05	2	154602	rs773062973	1.303e-05	1.3e-05	1.228e-05	1.379e-05	2.99e-05	8.33e-06	6.72e-06	1.013e-05	8.36e-06	2.99e-05	0	0	0	0	0	1.621e-05	0	0	6.57e-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	0.061	0.37118	T	0.553	0.33666	T	0.105	0.25993	B	0.017	0.18140	B	0.330384	0.14123	N	0.664334	1	0.08975	N	0	0.06538	N	-1.35	0.80035	T	-0.26	0.11185	N	0.091	0.13341	-0.9375	0.43010	T	0.195	0.54826	T	10	0.067866355	0.09518	T	0.070364	0.70982	D	0.165	0.42395	0.336	0.32491	0.330069100803	0.32608	0.1864160560567034	0.18559	0.233007264821	0.25837	0.34730297327	0.17525	T	0.094968	0.39524	T	-0.132808	0.31041	T	-0.358708	0.38203	T	0.071262817642043	0.08827	T	0.818018	0.47523	T	0.15418918	0.34913	0.19829382	0.43655	0.15418918	0.34912	0.19829382	0.43654	-3.366	0.17310	T	.	.	0.072	0.04119	B	.;.;.	.;.;.	1.318533	0.17221	13.03	0.91838768534996684	0.21149	0.20111	0.20919	N	AEFDGBHCI	0.276280	0.39105	N	-0.961613878613343	0.09433	0.4464288	-0.897019843420712	0.12164	0.6241355	0.999842134666351	0.43971	0.554377	0.28877	0	0.588066	0.40923	0	0.514498	0.09550	1	0.613276	0.41899	0	.	.	5.38	-2.88	0.05342	0.352000	0.19851	0.791000	0.21569	0.731000	0.85647	0.004000	0.16614	0.011000	0.20116	0.944000	0.48669	0.2443:0.0:0.7557:0.0	13.166	0.58992	315	0.87208	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	797.43	37	chr15	65055125	.	A	T	797.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.421;DP=400;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.942;SOR=0.634	GT:AD:DP:GQ:PL	0/1:30,29:59:99:809,0,824	9	0	1	0
chr15	65102402	65102402	T	C	exonic	UBAP1L	.	nonsynonymous SNV	UBAP1L:NM_001163692:exon3:c.A403G:p.S135G	.	418	1098	6	0	0	6	0.0027248	.	.	.	2197351	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00568327068346	.	.	0.0008	0	0	0	.	0	0	0.0013	8.41e-05	13	154602	rs773638566	0.0010	0.0010	0.0010	0.0010	0.0057	0.0010	0.0010	0.0039	0.0033	0.0001	0.0006	5.384e-05	0	0.0001	0.0057	0.0011	0.0009	0.0009	0.0006	0.0006	0.0006	0.0006	0.0012	0.0005	0.0004	0.0007	0.0007	0.0002	0	0.0006	0	0.0002	0	0	0.0009	0.0014	0.0012	0.051	0.39334	T	0.046	0.49120	D	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-1.27	0.31981	N	0.039	0.01347	-1.0264	0.21625	T	0.038	0.16548	T	8	0.014065087	0.00297	T	0.005683	0.14712	T	0.029	0.06676	.	.	0.0138822411134	0.00435	0.3004782983231865	0.29960	.	.	0.559719145298	0.47228	T	0.021553	0.16761	T	-0.603317	0.00139	T	-0.71866	0.04861	T	0.0187972239776742	0.00591	T	0.244976	0.03588	T	0.0375763	0.04843	0.04689363	0.06637	0.0375763	0.04843	0.04689363	0.06636	-3.762	0.20238	T	.	.	0.074	0.05103	B	.;.	.;.	0.465780	0.08354	5.106	0.78436377883704145	0.12300	0.06333	0.12331	N	AEFDBI	0.091053	0.18447	N	-1.33786640273286	0.03252	0.1449633	-1.39457716170517	0.03309	0.1541126	0.999952352421175	0.48110	0.554377	0.28877	0	0.588066	0.40923	0	0.606814	0.37721	0	0.613276	0.41899	0	.	.	2.92	-1.09	0.09397	-0.177000	0.09789	-0.088000	0.12093	-0.227000	0.07798	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1696:0.2077:0.1745:0.4482	0.580	0.00664	502	0.75873	.;.	.	.	.	.	.	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	0.004950	0.000000	0.000000	0.012500	0.000000	0.023810	0.000000	0.000000	0.05	151.43	24	chr15	65102402	.	T	C	151.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.198;DP=250;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.58;ReadPosRankSum=0.614;SOR=1.022	GT:AD:DP:GQ:PL	0/1:15,8:23:99:163,0,374	9	0	1	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R,DIS3L:NM_001323940:exon11:c.C987G:p.S329R,DIS3L:NM_001323943:exon11:c.C987G:p.S329R,DIS3L:NM_001323948:exon11:c.C1917G:p.S639R,DIS3L:NM_001143688:exon12:c.C2097G:p.S699R,DIS3L:NM_001323936:exon12:c.C1848G:p.S616R,DIS3L:NM_001323938:exon12:c.C1695G:p.S565R,DIS3L:NM_001323941:exon12:c.C1695G:p.S565R,DIS3L:NM_001323944:exon12:c.C2046G:p.S682R,DIS3L:NM_001323945:exon12:c.C1848G:p.S616R,DIS3L:NM_001323946:exon12:c.C1695G:p.S565R,DIS3L:NM_133375:exon12:c.C1848G:p.S616R,DIS3L:NM_001323939:exon13:c.C1695G:p.S565R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00807237602779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	7.595e-05	1.363e-06	1.376e-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	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.155	0.25355	T	0.353	0.17320	T	0.029	0.19866	B	0.033	0.22329	B	0.055829	0.22610	N	0.539436	0.999548	0.47497	D	-0.285	0.03692	N	1.3	0.35590	T	-1.92	0.44657	N	0.196	0.22228	-1.0764	0.08063	T	0.043	0.18618	T	10	0.08429423	0.14113	T	0.008072	0.21393	T	0.025	0.05312	0.424	0.46857	0.500994481783	0.49735	0.48282530288770603	0.48202	0.189759959303	0.21295	0.441389143467	0.30767	T	0.019826	0.15725	T	-0.2058	0.19975	T	-0.533394	0.18948	T	0.371591597795486	0.27858	T	0.811819	0.46320	T	0.13266377	0.30883	0.17544033	0.40009	0.13266377	0.30882	0.17544033	0.40008	-9.64	0.71728	D	.	.	0.195	0.42820	B	.;.	.;.	2.006311	0.25495	16.78	0.99354999151066503	0.60738	0.93367	0.58027	D	AEFBI	0.310496	0.41649	N	-0.52080163687102	0.21409	1.135919	-0.344169861240159	0.26690	1.475863	0.235350875039061	0.18512	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.44	0.28875	0.637000	0.24348	0.590000	0.19811	0.581000	0.30040	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.5695:0.1341:0.2964	5.619	0.16725	644	0.63734	.;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	.	.	.	.	.	.	.	.	0.15	266.46	90	chr15	66326260	.	C	G	266.46	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.856;DP=743;ExcessHet=0.7463;FS=266.576;InbreedingCoeff=-0.1768;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=0.922;SOR=9.289	GT:AD:DP:GQ:PL	0/1:71,25:96:21:21,0,1720	7	0	3	0
chr15	67236015	67236015	C	T	exonic	AAGAB	.	nonsynonymous SNV	AAGAB:NM_001271885:exon4:c.G88A:p.V30I,AAGAB:NM_001271886:exon4:c.G88A:p.V30I,AAGAB:NM_024666:exon4:c.G415A:p.V139I	Keratoderma, palmoplantar, punctate type IA, Autosomal dominant	13	1501	7	1	0	9	0.00298904	.	.	.	1442434	Palmoplantar_keratoderma,_punctate_type_1A|not_provided	MONDO:MONDO:0007858,MedGen:CN031225,OMIM:148600,Orphanet:79501|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.327	0.0471669953297	0.0004	0.000798722	0.0008	0.0001	8.64e-05	0	0	0.0010	0.0011	0.0016	0.0007244	112	154602	rs138601241	0.0005	0.0005	0.0005	0.0006	0.0026	0.0005	0.0005	0.0016	0.0015	8.964e-05	0.0002	0.0029	0	7.497e-05	0.0026	0.0004	0.0007	0.0018	0.0004	0.0004	0.0005	0.0004	0.0014	0.0003	0.0003	0.0007	0.0005	0	0.0044	0.0001	0.0014	0	0	0.0034	0.0007	0	0.0014	0.291	0.91255	T	0.149	0.33780	T	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.07	0.56829	M	-1.29	0.79475	T	-0.33	0.15782	N	0.879	0.87699	0.083	0.83866	D	0.652	0.87885	D	10	0.027752995	0.00916	T	0.047167	0.62796	D	0.327	0.64926	.	.	0.89380241201	0.89275	0.33751851136880145	0.33664	0.0809506791772	0.09113	0.592890322208	0.51903	T	0.026423	0.23030	T	-0.12214	0.32774	T	0.0385473	0.72832	D	0.0906381961433819	0.11294	T	0.89481	0.65783	D	0.10610521	0.25089	0.14053124	0.33496	0.10610521	0.25089	0.14053124	0.33495	-8.511	0.64502	D	.	.	0.153	0.42477	B	.;.;.;.	.;.;.;.	4.499444	0.70358	25.5	0.99858840836375173	0.93729	0.98663	0.85295	D	AEFGBI	0.827474	0.74676	D	0.729908545981298	0.81593	7.558748	0.720851368283199	0.83963	8.161448	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.48	5.48	0.80675	7.218000	0.77483	7.691000	0.65788	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.702	0.96054	929	0.16858	.;.;.;.	.	.	.	.	.	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	0.003021	0.005051	0.001359	0.002924	0.000000	0.000000	0.006098	0.007576	0.05	2145.43	36	chr15	67236015	.	C	T	2145.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.716;DP=485;ExcessHet=0;FS=7.627;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.389;SOR=0.58	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,89:172:99:0|1:67236015_C_T:2157,0,2914:67236015	9	0	1	0
chr15	71811481	71811481	A	C	splicing	NR2E3	NM_014249:exon2:c.119-2A>C;NM_016346:exon2:c.119-2A>C	.	.	Enhanced S-cone syndrome, Autosomal recessive;Retinitis pigmentosa 37, Autosomal recessive, Autosomal dominant	2	1518	1	1	0	3	0.000987167	.	.	YES	188865	Retinal_dystrophy|not_specified|not_provided|Visual_impairment|Horizontal_nystagmus|Color_vision_defect|Enhanced_S-cone_syndrome|Retinitis_pigmentosa_37|Inborn_genetic_diseases|Goldmann-Favre_syndrome|Cone-rod_dystrophy|Retinitis_pigmentosa|NR2E3-related_disorder|Ocular_albinism	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|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347|Human_Phenotype_Ontology:HP:0000666,MedGen:C0271385|Human_Phenotype_Ontology:HP:0000551,MedGen:C0234629|MONDO:MONDO:0100288,MedGen:C1849394,OMIM:268100,Orphanet:53540|MONDO:MONDO:0012625,MedGen:C1970163,OMIM:611131,Orphanet:791|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100289,MedGen:C0339541,Orphanet:53540|Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN239387|Human_Phenotype_Ontology:HP:0001107,Human_Phenotype_Ontology:HP:0007745,Human_Phenotype_Ontology:HP:0007837,MONDO:MONDO:0017304,MeSH:D016117,MedGen:C0078917,Orphanet:284804	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0004	0.0006	0	0	0	0.0007	0	0.0001	0.000194	30	154602	rs2723341	0.0007	0.0007	0.0007	0.0007	0.0008	0.0006	0.0006	0.0007	0.0007	0.0002	0.0001	0.0013	0	4.041e-05	0.0006	0.0008	0.0007	6.291e-05	0.0005	0.0005	0.0006	0.0004	0.0009	0.0004	0.0004	0.0007	0.0007	7.226e-05	0	0.0001	0.0017	0	0	0	0.0009	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.486155	0.00682	T	-0.531703	0.19118	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.054798	0.60130	24.2	0.93585304356508614	0.23434	0.76322	0.37423	D	AEFDGBI	.	.	.	0.612727978188276	0.73979	6.055322	0.33085623754199	0.57359	3.901529	0.991080041134912	0.32367	0.056701	0.00814	0	0.060609	0.00678	0	0.074216	0.02223	0	0.062806	0.01542	0	0.0954646	0.21411	3.69	3.69	0.41483	4.055000	0.57153	10.928000	0.84272	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.673000	0.33338	0.8869:0.0:0.1131:0.0	6.843	0.23157	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	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	.	.	.	.	.	.	.	.	0.05	931.43	41	chr15	71811481	.	A	C	931.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=456;ExcessHet=0;FS=0.744;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=-1.187;SOR=0.827	GT:AD:DP:GQ:PL	0/1:70,42:112:99:943,0,1691	9	0	1	0
chr15	72661342	72661342	G	A	exonic	GOLGA6B	.	nonsynonymous SNV	GOLGA6B:NM_018652:exon8:c.G643A:p.V215M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00161308893799	.	.	5.217e-05	0.0001	0	0.0002	0	3.188e-05	0	6.078e-05	3.84e-05	1	26028	rs773053523	5.617e-05	8.824e-05	6.134e-05	5.094e-05	0.0002	4.616e-05	4.242e-05	7.127e-05	5.484e-05	5.981e-05	2.236e-05	0	5.039e-05	1.92e-05	0.0002	5.666e-05	1.657e-05	0.0001	6.575e-05	9.843e-05	7.72e-05	5.379e-05	0.0004	3.519e-05	2.618e-05	6.816e-05	2.853e-05	7.25e-05	0	0.0001	0	0.0004	0	0	2.941e-05	0	0.0002	0.183	0.21718	T	0.194	0.28120	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	0.999744	0.20516	N	0.64	0.16041	N	1.97	0.22067	T	-0.53	0.16393	N	0.248	0.28028	-1.0095	0.27074	T	0.032	0.13811	T	9	0.037614614	0.02127	T	0.001613	0.02600	T	0.054	0.15330	0.185	0.09388	0.0401082797425	0.02173	0.11380420062270966	0.11308	.	.	0.861310660839	0.91304	D	0.003594	0.03000	T	-0.411734	0.01935	T	-0.569525	0.15494	T	0.04003503688079	0.03696	T	0.671933	0.28057	T	0.024315586	0.01252	0.035364285	0.02775	0.024315586	0.01251	0.035364285	0.02775	-4.389	0.29408	T	.	.	0.199	0.42259	B	.	.	0.701809	0.10706	7.399	0.77749846855300953	0.12006	0.00530	0.02456	N	AEFI	0.034736	0.04355	N	-1.10179631500486	0.06611	0.3048343	-1.22429112110196	0.05522	0.2633247	6.26686191044207E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.39	0.39	0.15500	-0.175000	0.09816	0.876000	0.22354	0.295000	0.18837	0.002000	0.15269	0.250000	0.23912	0.001000	0.02609	1.0E-4:1.0E-4:0.5495:0.4504	3.425	0.06981	431	0.80762	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	464.43	40	chr15	72661342	.	G	A	464.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.367;DP=614;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=39.86;MQRankSum=0.511;QD=2.08;ReadPosRankSum=0.288;SOR=0.74	GT:AD:DP:GQ:PL	0/1:180,43:223:99:476,0,4301	9	0	1	0
chr15	75270143	75270143	G	A	exonic	GOLGA6C	.	nonsynonymous SNV	GOLGA6C:NM_001164404:exon18:c.G2026A:p.D676N	.	357	1154	9	2	0	13	0.00560103	.	.	.	2238037	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.160	0.00363506451446	.	.	0.0001	0.0004	0	0.0002	0	0.0002	0.0011	0	0.0001617	25	154602	rs759718533	0.0003	0.0010	0.0003	0.0003	0.0034	0.0003	0.0003	0.0021	0.0017	0.0005	0.0009	3.874e-05	0.0010	0	0.0034	0.0003	0.0004	0.0002	0.0002	0.0009	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	0.0001	0	0.0004	0	0	0	0.0105	0.0002	0.0010	0	0.086	0.32610	T	0.143	0.33219	T	0.996	0.68779	D	0.981	0.75168	D	.	.	.	.	0.999637	0.20820	N	3.08	0.87267	M	1.89	0.23688	T	-2.29	0.50992	N	0.172	0.18376	-1.0248	0.22148	T	0.122	0.42272	T	8	0.15918177	0.29915	T	0.003635	0.08340	T	0.160	0.41473	0.263	0.20788	0.144782658237	0.14088	0.05356826369261531	0.05298	0.00230504125883	0.00198	0.591845035553	0.51754	T	0.045974	0.27284	T	-0.516048	0.00464	T	-0.670176	0.07597	T	0.118791940562018	0.14312	T	0.611839	0.23263	T	0.0900664	0.21064	0.06462031	0.12978	0.0900664	0.21064	0.06462031	0.12978	-3.521	0.16727	T	.	.	0.079	0.07460	B	.	.	1.468082	0.18916	13.99	0.98644588008126977	0.44096	0.53252	0.29327	D	AEFDI	0.281013	0.39469	N	-0.215494524765919	0.32497	1.833375	-0.517876742663213	0.21668	1.173238	0.0072213483233818	0.11414	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	3.975000	0.56567	2.248000	0.31665	0.393000	0.20503	1.000000	0.71638	0.994000	0.32194	0.002000	0.04165	0.001:0.0:0.999:0.0	5.818	0.17765	513	0.74941	.	.	.	.	.	.	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	0.001603	0.015464	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05556	531.08	.	chr15	75270143	.	G	A	531.08	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.89;DP=416;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=53.23;MQRankSum=-9.467;QD=3.99;ReadPosRankSum=0.426;SOR=0.756	GT:AD:DP:GQ:PL	0/1:101,32:133:99:542,0,2565	8	0	1	1
chr15	75687854	75687854	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G3211A:p.V1071I	.	429	1082	10	1	0	12	0.00551471	.	.	.	3430021	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.0095671237633	0.0002	0.000199681	0.0002	9.86e-05	8.672e-05	0	0	0.0002	0.0034	0.0005	0.000207	32	154602	rs143544297	0.0002	0.0002	0.0001	0.0002	0.0062	0.0002	0.0002	0.0046	0.0041	8.961e-05	0.0001	0.0003	7.557e-05	0	0.0062	0.0001	0.0003	0.0009	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.623e-05	0	0.0002	0.0003	0	0	0.0068	0.0001	0.0014	0.0008	0.203	0.20154	T	0.211	0.26631	T	0.226	0.30455	B	0.041	0.23986	B	0.175967	0.17237	N	0.539133	1	0.08975	N	1.54	0.38927	L	0.98	0.42122	T	-0.74	0.20791	N	0.274	0.31027	-1.0328	0.19554	T	0.098	0.36677	T	10	0.02402541	0.00647	T	0.009567	0.25039	T	0.040	0.10527	.	.	0.223847106136	0.22009	0.1985138272065129	0.19768	0.283660828332	0.30797	0.264948606491	0.05494	T	0.07349	0.34710	T	-0.514191	0.00475	T	-0.633646	0.10139	T	0.00931770984205036	0.00119	T	0.562944	0.19809	T	0.06855209	0.14943	0.11397094	0.27508	0.06855209	0.14943	0.11397094	0.27507	-7.786	0.59602	D	.	.	0.099	0.16843	B	.	.	2.275660	0.29088	18.01	0.98078269462014078	0.38086	0.44108	0.27246	N	AEFDGBHCI	0.151457	0.27594	N	-0.466872488934897	0.23171	1.242485	-0.463218025171598	0.23174	1.262469	0.999484923228312	0.39952	0.59774	0.34471	0	0.588066	0.40923	0	0.576033	0.28219	0	0.63947	0.58350	0	.	.	5.07	4.14	0.47821	1.466000	0.34919	4.059000	0.41572	0.520000	0.23804	0.001000	0.13787	0.326000	0.24349	0.815000	0.38403	0.0:0.913:0.0:0.087	11.734	0.51022	162	0.93704	.	.	.	.	.	.	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	0.005051	0.010899	0.011696	0.000000	0.008621	0.000000	0.000000	0.05	1662.43	33	chr15	75687854	.	C	T	1662.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.15;DP=620;ExcessHet=0;FS=2.229;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.589;SOR=0.505	GT:AD:DP:GQ:PL	0/1:65,64:129:99:1674,0,1621	9	0	1	0
chr15	75689635	75689635	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G1430A:p.R477H	.	422	1077	23	0	0	23	0.010565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0120667652604	.	.	0.0066	0.0030	0.0036	0.0006	0.0030	0.0091	0.0045	0.0054	3.84e-05	1	26028	rs200493777	7.295e-05	0.0015	7.395e-05	7.193e-05	0.0008	6.151e-05	5.734e-05	0.0005	0.0005	0.0008	0.0001	0	0.0002	0.0001	0.0005	4.339e-05	6.65e-05	6.975e-05	0.0004	0.0022	0.0003	0.0004	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0001	0.0003	0	0.0003	0	8.969e-05	0.0005	0.0004	0.544	0.06713	T	0.024	0.56640	D	0.513	0.37366	P	0.079	0.28749	B	0.000447	0.44317	D	0.096704	0.953023	0.26418	N	2.595	0.75868	M	2.14	0.19450	T	-1.73	0.41046	N	0.24	0.27077	-1.0460	0.15534	T	0.043	0.18326	T	10	0.00795725	0.00181	T	0.012067	0.30309	T	0.068	0.19811	.	.	0.366659145958	0.36277	0.5800590243062339	0.57934	0.423483163706	0.42806	0.293441236019	0.09426	T	0.182449	0.53447	T	-0.172229	0.24898	T	-0.485171	0.23899	T	0.0405854374412424	0.03796	T	0.773423	0.40508	T	0.036069673	0.04365	0.037466243	0.03404	0.036069673	0.04365	0.037466243	0.03404	-4.29	0.28037	T	.	.	0.075	0.05711	B	.	.	1.613444	0.20617	14.83	0.98479293593176109	0.41954	0.24936	0.22547	N	AEFBI	0.188776	0.31604	N	-0.352546072684954	0.27179	1.489096	-0.401571392193893	0.24950	1.369288	0.99754577931452	0.35740	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.12	4.19	0.48645	0.882000	0.27824	1.349000	0.25794	0.524000	0.24156	0.003000	0.16062	0.750000	0.26544	0.003000	0.05239	0.0:0.8315:0.0:0.1685	9.359	0.37349	162	0.93704	.	.	.	.	.	.	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	0.016110	0.026667	0.005464	0.004310	0.055556	0.034483	0.025547	0.016393	0.1	560.14	45	chr15	75689635	.	C	T	560.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.42;DP=634;ExcessHet=0.2348;FS=28.292;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.15;MQRankSum=-8.672;QD=2.4;ReadPosRankSum=-1.318;SOR=2.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,12:105:99:0|1:75689631_A_G:208,0,3757:75689631	8	0	2	0
chr15	78777523	78777523	G	A	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon9:c.C1388T:p.P463L	.	417	1099	6	0	0	6	0.00272232	.	.	.	2332272	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.095	0.00509891206307	.	0.000599042	0.0008	0.0003	0.0003	0	0	0.0009	0.0017	0.0012	0.0001153	3	26028	rs548345891	0.0007	0.0013	0.0006	0.0008	0.0018	0.0007	0.0007	0.0016	0.0015	2.991e-05	0.0008	0.0002	0	0.0002	0.0016	0.0007	0.0007	0.0018	0.0013	0.0013	0.0013	0.0013	0.0033	0.0012	0.0011	0.0021	0.0019	0.0004	0	0.0028	0.0003	0.0002	9.416e-05	0.0068	0.0017	0.0024	0.0033	0.415	0.09989	T	0.406	0.14725	T	0.004	0.12183	B	0.01	0.14941	B	0.000429	0.44522	N	0.153344	0.533347	0.31472	N	-0.445	0.02820	N	3.93	0.03435	T	-3.27	0.65512	D	0.272	0.30800	-0.9344	0.43485	T	0.004	0.01365	T	10	0.022862792	0.00582	T	0.005099	0.12939	T	0.095	0.27398	.	.	0.332133492242	0.32818	0.46115626342589794	0.46033	0.208875763373	0.23355	0.39249420166	0.24020	T	0.073114	0.34618	T	-0.291586	0.09477	T	-0.656619	0.08497	T	0.0678239762783051	0.08343	T	0.765223	0.39255	T	0.03946207	0.05453	0.049569562	0.07604	0.03946207	0.05453	0.049569562	0.07603	-4.113	0.25481	T	.	.	0.055	0.00420	B	.	.	-0.072575	0.03807	0.808	0.49329394262681497	0.04191	0.11293	0.16538	N	AEFBI	0.062667	0.12060	N	-1.3346450811985	0.03287	0.1465657	-1.26748512958296	0.04877	0.2311172	0.118291593936136	0.16820	0.634777	0.41761	0	0.588015	0.36545	0	0.779548	0.98927	0	0.645665	0.59343	0	.	.	4.02	1.03	0.19161	1.214000	0.32023	0.256000	0.16486	-0.870000	0.02561	0.848000	0.30412	0.001000	0.17328	0.001000	0.02609	0.3221:0.0:0.6779:0.0	7.210	0.25103	493	0.76500	.	.	.	.	.	.	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	0.000507	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	545.43	41	chr15	78777523	.	G	A	545.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.7;DP=454;ExcessHet=0;FS=5.419;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.82;MQRankSum=-7.089;QD=6.49;ReadPosRankSum=1.73;SOR=1.055	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,18:84:99:0|1:78777516_G_C:557,0,2717:78777516	9	0	1	0
chr15	80979281	80979281	C	T	exonic	MESD	.	nonsynonymous SNV	MESD:NM_015154:exon3:c.G643A:p.D215N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00374647076671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.23007	T	0.033	0.53072	D	0.003	0.11197	B	0.005	0.11217	B	0.735015	0.06393	N	1.113020	1	0.08975	N	0.69	0.16971	N	.	.	.	-0.65	0.18877	N	0.07	0.04307	-1.0125	0.26133	T	0.063	0.26172	T	9	0.06306937	0.08161	T	0.003746	0.08682	T	0.043	0.11576	0.339	0.32979	0.128874641272	0.12493	0.09925729230670419	0.09856	0.150817111893	0.17009	0.336606562138	0.15930	T	0.174057	0.52315	T	-0.302098	0.08464	T	-0.671719	0.07498	T	0.096747561527059	0.11995	T	0.676232	0.28483	T	0.095348746	0.22439	0.046599172	0.06530	0.095348746	0.22438	0.046599172	0.06530	-3.729	0.19747	T	.	.	0.065	0.01884	B	.;.	.;.	1.688363	0.21515	15.23	0.98883705611896733	0.47877	0.35702	0.25363	N	AEFBI	0.116050	0.22792	N	-0.886794806833915	0.11156	0.5368538	-0.856471271489746	0.13132	0.6795677	0.996541291354058	0.34819	0.722319	0.85440	0	0.702456	0.74545	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.07	1.12	0.19700	0.657000	0.24647	-0.506000	0.08774	0.599000	0.40250	0.228000	0.24622	0.000000	0.08366	0.237000	0.22922	0.0:0.6053:0.0:0.3947	7.887	0.28822	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	1	0	0	0	.	.	.	.	.	.	.	.	0.1	169.13	34	chr15	80979281	.	C	T	169.13	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.089;DP=647;ExcessHet=0.2348;FS=150.547;InbreedingCoeff=-0.1391;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=2.43;SOR=7.903	GT:AD:DP:GQ:PL	0/1:80,35:115:83:83,0,1440	8	0	2	0
chr15	82264770	82264770	G	A	exonic	SAXO2	.	nonsynonymous SNV	SAXO2:NM_001348705:exon4:c.G206A:p.S69N	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.669e-06	3.181e-06	0	6.773e-06	1.616e-05	6.1e-07	2.3e-07	.	.	0	0	0	0	0	0	3.17e-06	0	1.616e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	360.44	21	chr15	82264770	.	G	A	360.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.44;DP=165;ExcessHet=0;FS=0;InbreedingCoeff=-0.0538;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.97;ReadPosRankSum=1.05;SOR=0.61	GT:AD:DP:GQ:PL	0/1:6,13:19:99:372,0,156	9	0	1	0
chr15	82810237	82810237	C	T	exonic	WHAMM	.	nonsynonymous SNV	WHAMM:NM_001080435:exon1:c.C511T:p.P171S	.	436	1078	8	0	0	8	0.00369686	.	.	.	3352750	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.060135911408	.	.	0.0007	0	0	0	.	0	0	0.0009	4.53e-05	7	154602	rs751761714	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	0.0001	0.0005	0.0004	0	0.0003	0	0	0	0.0014	0.0001	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	7.114e-05	5.766e-05	0.0001	8.319e-05	4.834e-05	0	0.0003	0	0	0	0	0.0001	0	0.0002	0.472	0.08433	T	0.763	0.04587	T	0.123	0.26785	B	0.034	0.22546	B	0.444282	0.12588	N	0.749563	0.533783	0.31997	D	1.265	0.31966	L	3.24	0.06845	T	-0.66	0.19085	N	0.077	0.05162	-1.0461	0.15505	T	0.017	0.06759	T	10	0.038008124	0.02191	T	0.060136	0.67899	D	0.019	0.03383	.	.	0.0846915920261	0.08053	0.11628118282059044	0.11556	2.12773366393	0.95105	0.894999980927	0.95867	D	0.00109	0.00611	T	-0.43216	0.01439	T	-0.492102	0.23171	T	0.0949392853817235	0.11792	T	0.507449	0.16094	T	0.056861203	0.11243	0.07927789	0.17834	0.056861203	0.11242	0.07927789	0.17834	-3.855	0.21629	T	.	.	0.139	0.30397	B	.	.	2.937337	0.39040	20.9	0.92561393407009995	0.22014	0.24261	0.22338	N	AEFDBHCIJ	0.032605	0.03714	N	-0.634498064928836	0.17915	0.9259346	-0.630523109753826	0.18710	1.000737	0.999999999898395	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.231153	0.04653	2	0.249971	0.05119	0	.	.	3.21	2.24	0.27264	0.329000	0.19442	3.500000	0.38772	0.505000	0.23025	0.997000	0.40164	0.998000	0.33993	0.014000	0.10232	0.0:0.6893:0.1942:0.1165	7.147	0.24766	498	0.76166	JMY/WHAMM, middle 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	.	.	.	.	.	.	.	.	0.05	221.43	28	chr15	82810237	.	C	T	221.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.922;DP=298;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.71;ReadPosRankSum=0.075;SOR=0.914	GT:AD:DP:GQ:PL	0/1:21,12:33:99:233,0,541	9	0	1	0
chr15	84512452	84512452	C	0	exonic	GOLGA6L4	.	.	.	.	671	744	60	0	47	107	0.0387597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2761.96	199	chr15	84512452	.	C	*	2761.96	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.411;DP=1594;ExcessHet=4.5998;FS=0.59;InbreedingCoeff=-0.4286;MLEAC=2;MLEAF=0.1;MQ=44.5;MQRankSum=-1.017;QD=2.35;ReadPosRankSum=0.115;SOR=0.639	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:170,34:204:99:.:.:640,0,6140:.	8	0	2	0
chr15	90948158	90948158	C	G	exonic	UNC45A	.	nonsynonymous SNV	UNC45A:NM_001323620:exon12:c.C1177G:p.Q393E,UNC45A:NM_001323621:exon12:c.C1567G:p.Q523E,UNC45A:NM_018671:exon12:c.C1612G:p.Q538E,UNC45A:NM_001323619:exon13:c.C1612G:p.Q538E,UNC45A:NM_001039675:exon15:c.C1567G:p.Q523E	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00318865664236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.03787	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.019221	0.27304	N	0.427611	0.965348	0.25942	N	0.46	0.12951	N	0.87	0.46412	T	-0.5	0.15782	N	0.199	0.21969	-1.0418	0.16770	T	0.060	0.25163	T	10	0.08967635	0.15556	T	0.003189	0.06996	T	0.054	0.15330	0.442	0.49811	0.450055297382	0.44628	0.07308727285677052	0.07245	0.140064507069	0.15782	0.53606235981	0.43890	T	0.024752	0.18645	T	-0.218976	0.18131	T	-0.55232	0.17103	T	0.0949286222457886	0.11790	T	0.414759	0.10842	T	0.061945498	0.12884	0.053058937	0.08865	0.061945498	0.12884	0.053058937	0.08864	-2.218	0.04128	T	.	.	0.066	0.03231	B	.;.;.	.;.;.	3.306175	0.45409	22.1	0.98137915798040121	0.38580	0.84203	0.43286	D	AEFGBI	0.265809	0.38285	N	-0.405365619664779	0.25280	1.371171	-0.220234890280571	0.30812	1.738078	0.98302857268941	0.30492	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.711	0.71501	0	.	.	5.31	3.29	0.36801	0.310000	0.19112	2.801000	0.34852	0.599000	0.40250	0.944000	0.32806	0.999000	0.35428	0.956000	0.50813	0.125:0.445:0.43:0.0	9.294	0.36965	542	0.72843	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1262.43	39	chr15	90948158	.	C	G	1262.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.264;DP=461;ExcessHet=0;FS=0.681;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-0.445;SOR=0.603	GT:AD:DP:GQ:PL	0/1:70,58:128:99:1274,0,1788	9	0	1	0
chr15	98908747	98908747	G	A	exonic	IGF1R	.	nonsynonymous SNV	IGF1R:NM_000875:exon6:c.G1310A:p.R437H,IGF1R:NM_001291858:exon6:c.G1310A:p.R437H	Insulin-like growth factor I, resistance to, Autosomal recessive, Autosomal dominant	0	1509	13	0	0	13	0.00428901	.	.	.	195269	not_provided|IGF1R-related_disorder|Growth_delay_due_to_insulin-like_growth_factor_I_resistance|not_specified	MedGen:C3661900|.|MONDO:MONDO:0010038,MedGen:C1849157,OMIM:270450,Orphanet:73273|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.192	0.0339117963439	0.0036	0.000599042	0.0032	0.0006	0.0012	0	0.0023	0.0047	0.0023	0.0024	0.0032729	506	154602	rs34516635	0.0036	0.0036	0.0036	0.0037	0.0040	0.0036	0.0035	0.0039	0.0039	0.0007	0.0011	0.0086	0	0.0025	0.0023	0.0040	0.0030	0.0026	0.0028	0.0028	0.0029	0.0026	0.0045	0.0026	0.0025	0.0041	0.0039	0.0006	0	0.0014	0.0069	0.0004	0.0027	0	0.0045	0.0024	0.0031	1.0	0.00964	T	1.0	0.01155	T	0.0	0.09854	B	0.0	0.01387	B	0.000935	0.41028	D	0.101366	0.954851	0.37897	D	-0.845	0.01495	N	-1.34	0.79944	T	1.99	0.00501	N	0.104	0.09066	-0.9114	0.46682	T	0.123	0.42589	T	10	0.008615285	0.00195	T	0.033912	0.55311	D	0.192	0.47115	.	.	0.540632900629	0.53715	0.6243959439015428	0.62372	0.766984657978	0.64557	0.282900393009	0.07900	T	0.517004	0.83036	D	-0.388586	0.02748	T	-0.324414	0.42088	T	0.00407535949548423	0.00043	T	0.89481	0.63428	D	0.046101693	0.07661	0.04245196	0.05059	0.053907227	0.10270	0.039693978	0.04121	-5.199	0.38931	T	0.03122240378634345	0.00100	0.061	0.02960	B	.;.;.;.;.	.;.;.;.;.	2.245612	0.28682	17.88	0.27397584490369331	0.01358	0.68255	0.33733	D	AEFGBHCI	0.159582	0.28540	N	-0.690757670455928	0.16283	0.8282654	-0.44495030008755	0.23692	1.293383	0.999999859548895	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.78	2.48	0.29194	3.980000	0.56603	5.044000	0.46937	-0.127000	0.13314	1.000000	0.71638	1.000000	0.68203	0.765000	0.36330	0.4329:0.0:0.5671:0.0	7.251	0.25327	988	0.01987	Receptor L-domain;Receptor L-domain;Receptor L-domain;Receptor L-domain;Receptor L-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	0.002518	0.005051	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.05	1234.43	34	chr15	98908747	.	G	A	1234.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.871;DP=470;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=1.92;SOR=0.687	GT:AD:DP:GQ:PL	0/1:86,55:141:99:1246,0,2018	9	0	1	0
chr15	101065985	101065985	C	T	exonic	LRRK1	.	nonsynonymous SNV	LRRK1:NM_024652:exon32:c.C5548T:p.R1850C	.	8	1502	12	0	0	12	0.00397878	.	.	.	725912	not_provided|LRRK1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.153	0.0230744527681	0.0059	0.00119808	0.0048	0.0022	0.0010	0	0.0067	0.0074	0.0045	0.0002	0.0049676	768	154602	rs41525944	0.0070	0.0070	0.0073	0.0067	0.0084	0.0069	0.0068	0.0082	0.0082	0.0010	0.0011	0	2.519e-05	0.0092	0.0021	0.0084	0.0049	0.0005	0.0049	0.0049	0.0053	0.0045	0.0079	0.0046	0.0045	0.0074	0.0072	0.0015	0.0373	0.0012	0	0	0.0082	0	0.0079	0.0009	0.0008	0.098	0.30800	T	0.05	0.48080	T	0.0	0.02946	B	0.0	0.01387	B	0.369142	0.04351	N	1.389520	1	0.08975	N	0.69	0.16971	N	-0.65	0.72237	T	-0.41	0.14000	N	0.122	0.11340	-0.9763	0.35838	T	0.119	0.41691	T	10	0.0031855106	0.00054	T	0.023074	0.46020	T	0.153	0.40148	.	.	0.682620645307	0.67991	0.09349703384311592	0.09281	0.547617317085	0.51724	0.213531345129	0.00970	T	0.018025	0.14600	T	-0.470027	0.00850	T	-0.432342	0.29670	T	0.0023338984139605	0.00024	T	0.320668	0.06474	T	0.035793882	0.04282	0.026483964	0.00740	0.035793882	0.04282	0.026483964	0.00740	-4.465	0.30428	T	.	.	0.068	0.02829	B	.	.	1.382203	0.17940	13.46	0.88942789989845961	0.18381	0.10522	0.16006	N	AEFDBCI	.	.	.	-1.30341724546518	0.03636	0.1627715	-1.28658579650846	0.04611	0.2178996	0.99825570180393	0.36648	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.33	-0.506	0.11391	0.121000	0.15496	0.321000	0.17185	-1.642000	0.00838	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1423:0.5578:0.0:0.2999	7.239	0.25262	870	0.31527	.	.	.	.	.	.	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	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.007576	0.05	2780.43	34	chr15	101065985	.	C	T	2780.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.045;DP=557;ExcessHet=0;FS=1.613;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.088;SOR=0.769	GT:AD:DP:GQ:PL	0/1:110,116:226:99:2792,0,2540	9	0	1	0
chr16	651860	651860	C	A	exonic	WDR90	.	nonsynonymous SNV	WDR90:NM_145294:exon9:c.C874A:p.P292T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0114463718031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.018	0.59732	D	0.958	0.54977	D	0.579	0.50152	P	0.268766	0.03758	U	1.981610	0.999999	0.08975	N	2.545	0.74286	M	1.46	0.32958	T	-3.81	0.71882	D	0.136	0.13341	-1.0373	0.18140	T	0.175	0.51848	T	10	0.11938313	0.22591	T	0.011446	0.29087	T	0.057	0.16321	0.199	0.11247	0.18274738541	0.17906	0.21672370675044816	0.21588	0.131226242249	0.14795	0.305827319622	0.11277	T	0.054168	0.29647	T	-0.20299	0.20373	T	-0.529357	0.19350	T	0.595296919345856	0.36214	D	0.557644	0.19406	T	0.09292102	0.21811	0.08139688	0.18494	0.09292102	0.21811	0.08139688	0.18494	-4.83	0.34939	T	.	.	0.099	0.16494	B	.;.	.;.	1.426977	0.18448	13.74	0.99200490853633227	0.55261	0.14907	0.18647	N	AEFBI	0.064881	0.12623	N	-0.586533584956208	0.19352	1.012188	-0.795265068511436	0.14611	0.7643251	0.999992966030871	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	3.94	0.663	0.17054	0.260000	0.18192	0.412000	0.18122	-0.217000	0.08171	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.502:0.3868:0.1112	5.763	0.17478	654	0.62520	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1807.43	34	chr16	651860	.	C	A	1807.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.4;DP=455;ExcessHet=0;FS=1.435;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.344;SOR=0.764	GT:AD:DP:GQ:PL	0/1:49,78:127:99:1819,0,1025	9	0	1	0
chr16	717164	717164	C	T	exonic	METRN	.	nonsynonymous SNV	METRN:NM_024042:exon4:c.C659T:p.P220L	.	427	1082	13	0	0	13	0.00597152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00226248385481	0.0014	0.00119808	0.0014	0.0041	0.0005	0	0	0.0003	0	0.0058	0.0008473	131	154602	rs150417120	0.0006	0.0006	0.0004	0.0007	0.0052	0.0005	0.0005	0.0048	0.0047	0.0042	0.0003	0	2.543e-05	0	0.0030	0.0001	0.0007	0.0052	0.0014	0.0014	0.0013	0.0015	0.0052	0.0012	0.0012	0.0036	0.0031	0.0037	0	0.0003	0	0	0	0.0170	0.0003	0.0009	0.0052	0.696	0.04226	T	0.684	0.23984	T	0.0	0.02946	B	0.0	0.01387	B	0.046368	0.23446	N	0.420026	1	0.08975	N	-1.95	0.00216	N	1.71	0.26737	T	1.45	0.00835	N	0.044	0.12770	-0.9802	0.34955	T	0.017	0.06759	T	9	0.0034618378	0.00061	T	0.002262	0.04314	T	.	.	.	.	0.0551355673512	0.04727	0.40429874683861805	0.40345	0.264844217052	0.29036	0.344975709915	0.17180	T	0.003143	0.02546	T	-0.579012	0.00195	T	-0.603534	0.12516	T	0.00177680713760877	0.00018	T	0.60384	0.22664	T	0.021980561	0.00832	0.024941843	0.00524	0.021980561	0.00832	0.024941843	0.00524	-3.034	0.10552	T	.	.	0.051	0.00259	B	.;.	.;.	0.377872	0.07500	4.142	0.79010860548426631	0.12550	0.00887	0.03492	N	AEFGBHCI	0.086726	0.17585	N	-1.48553118158024	0.01952	0.08568558	-1.39632914982578	0.03291	0.1532207	0.999998413834424	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.493711	0.08198	1	0.699875	0.68795	0	.	.	4.94	1.36	0.21139	1.467000	0.34930	-0.273000	0.10332	-0.131000	0.13161	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:0.2552:0.161:0.5838	4.444	0.11009	662	0.61715	.;.	.	.	.	.	.	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	0.008603	0.000000	0.009537	0.005952	0.000000	0.008621	0.000000	0.018939	0.05	2503.43	39	chr16	717164	.	C	T	2503.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.88;DP=521;ExcessHet=0;FS=0.541;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.458;SOR=0.756	GT:AD:DP:GQ:PL	0/1:89,94:183:99:2515,0,2097	9	0	1	0
chr16	728857	728857	T	C	exonic	HAGHL	.	nonsynonymous SNV	HAGHL:NM_032304:exon6:c.T562C:p.C188R,HAGHL:NM_001290137:exon7:c.T562C:p.C188R,HAGHL:NM_001290139:exon7:c.T562C:p.C188R,HAGHL:NM_001323635:exon7:c.T562C:p.C188R,HAGHL:NM_001323636:exon7:c.T562C:p.C188R,HAGHL:NM_001365282:exon7:c.T562C:p.C188R	.	431	1078	13	0	0	13	0.00599355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0773881215239	0.0002	0.000998403	0.0009	0	0.0003	0	0	0.0003	0	0.0048	0.0006274	97	154602	rs149082510	0.0005	0.0004	0.0003	0.0006	0.0052	0.0004	0.0004	0.0048	0.0046	3.034e-05	0.0003	0	0	0	0.0026	0.0001	0.0005	0.0052	0.0004	0.0004	0.0003	0.0005	0.0055	0.0003	0.0003	0.0038	0.0033	0	0	0.0001	0	0.0002	0	0.0176	0.0003	0.0010	0.0055	0.52	0.22312	T	0.531	0.21478	T	0.011	0.32608	B	0.003	0.24975	B	0.949066	0.07644	N	1.023790	0.999996	0.08975	N	0.345	0.11182	N	-3.65	0.95179	D	-0.35	0.15578	N	0.046	0.06322	-0.4036	0.71914	T	0.519	0.82009	D	10	0.011203229	0.00246	T	0.077388	0.72759	D	0.188	0.46444	.	.	0.33110744837	0.32714	0.3462574308157688	0.34539	0.342726518813	0.36201	0.48286563158	0.36451	T	0.014856	0.14410	T	-0.287706	0.09868	T	-0.185231	0.56036	T	0.012360876234623	0.00202	T	0.218178	0.02774	T	0.16949926	0.37469	0.08519172	0.19652	0.16949926	0.37469	0.08519172	0.19651	-4.033	0.24296	T	.	.	0.118	0.24226	B	.;.;.;.	.;.;.;.	0.945708	0.13218	9.717	0.628519671272458	0.07069	0.21238	0.21331	N	AEFDGBHCI	0.313896	0.41892	N	-1.15548025119938	0.05690	0.2600612	-1.23826192218242	0.05307	0.252553	0.999999999998732	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	4.74	-5.67	0.02247	0.184000	0.16748	-5.007000	0.01889	-0.157000	0.11712	0.014000	0.18986	0.000000	0.08366	0.825000	0.38878	0.3067:0.1819:0.3362:0.1753	0.782	0.00976	658	0.62094	.;.;Hydroxyacylglutathione hydrolase, C-terminal 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	0.007560	0.000000	0.005435	0.005882	0.000000	0.017241	0.000000	0.018939	0.05	1376.43	46	chr16	728857	.	T	C	1376.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.078;DP=486;ExcessHet=0;FS=1.678;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-2.185;SOR=0.931	GT:AD:DP:GQ:PL	0/1:38,62:100:99:1388,0,895	9	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	3512.36	45	chr16	1397277	.	A	*	3512.36	.	AC=8;AF=0.444;AN=18;BaseQRankSum=0.056;DP=806;ExcessHet=5.3821;FS=3.421;InbreedingCoeff=-0.3919;MLEAC=9;MLEAF=0.5;MQ=59.91;MQRankSum=0;QD=6.39;ReadPosRankSum=-0.022;SOR=0.464	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:32,21:53:99:.:.:496,0,904:.	2	1	6	1
chr16	1860417	1860417	G	T	exonic	MEIOB	.	nonsynonymous SNV	MEIOB:NM_001163560:exon5:c.C318A:p.S106R,MEIOB:NM_152764:exon5:c.C318A:p.S106R	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00400541123372	0.0009	0.00159744	0.0014	0	0.0048	0	0.0018	0.0027	0	0.0003	0.0004916	76	154602	rs143362679	0.0021	0.0021	0.0021	0.0021	0.0026	0.0021	0.0020	0.0024	0.0023	0.0003	0.0014	0.0011	0	0.0021	0.0026	0.0024	0.0022	7.595e-05	0.0022	0.0022	0.0024	0.0020	0.0041	0.0020	0.0019	0.0032	0.0030	0.0004	0.0439	0.0041	0.0012	0	0.0020	0	0.0028	0.0028	0	0.325	0.13349	T	0.125	0.35330	T	0.004	0.12183	B	0.006	0.12133	B	0.000109	0.50451	D	0.213183	0.575299	0.81001	D	0.805	0.20218	L	3.65	0.04267	T	-1.46	0.35792	N	0.197	0.24260	-0.9976	0.30590	T	0.007	0.02558	T	10	0.0053097606	0.00116	T	0.004005	0.09493	T	0.062	0.17934	0.246	0.18139	0.0666544352282	0.05500	0.35094414074570096	0.35008	.	.	0.3938575387	0.24211	T	0.003727	0.03130	T	-0.624759	0.00103	T	-0.674815	0.07303	T	0.0120657914584396	0.00191	T	0.782522	0.42251	T	0.12700662	0.29733	0.10727827	0.25823	0.13033628	0.30415	0.11849232	0.28602	-6.526	0.52885	T	0.15011650046521713	0.17608	0.585	0.70588	P	.;.	.;.	1.840025	0.23376	15.99	0.83735990426788431	0.14890	0.87349	0.46861	D	AEFBI	0.395357	0.47225	N	-0.438770560264945	0.24121	1.30029	-0.32277132743541	0.27365	1.51793	9.40698823076741E-5	0.04910	0.623552	0.39893	0	0.59043	0.45803	0	0.667671	0.60360	0	0.530356	0.10902	0	.	.	5.1	0.283	0.14947	0.477000	0.21906	2.718000	0.34289	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.3646:0.1479:0.4876:0.0	5.130	0.14235	662	0.61715	.;.	.	.	.	.	.	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	1	0	0	0	0.003797	0.000000	0.000000	0.000000	0.000000	0.000000	0.005882	0.013889	0.05	541.43	37	chr16	1860417	.	G	T	541.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=418;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.03;ReadPosRankSum=-0.399;SOR=0.723	GT:AD:DP:GQ:PL	0/1:51,26:77:99:553,0,1244	9	0	1	0
chr16	2040212	2040212	C	T	exonic	NTHL1	.	nonsynonymous SNV	NTHL1:NM_001318193:exon4:c.G541A:p.A181T,NTHL1:NM_001318194:exon5:c.G382A:p.A128T,NTHL1:NM_002528:exon5:c.G712A:p.A238T	Familial adenomatous polyposis 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	643995	not_provided|NTHL1-related_disorder|Familial_adenomatous_polyposis_3|Hereditary_cancer-predisposing_syndrome	MedGen:C3661900|.|MONDO:MONDO:0014630,MedGen:C4225157,OMIM:616415,Orphanet:220460,Orphanet:454840|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.296	0.0474998369251	0.0008	0.000599042	0.0002	0.0020	0.0002	0	0	3.017e-05	0	0	0.0001811	28	154602	rs147559648	6.706e-05	6.772e-05	6.4e-05	7.015e-05	0.0015	5.63e-05	5.173e-05	0.0012	0.0011	0.0015	0.0002	0	0	0	0.0002	2.968e-05	9.936e-05	0	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0011	0.0010	0.0013	0	0.0003	0	0	0	0.0034	1.47e-05	0	0	0.55	0.06585	T	0.248	0.23845	T	0.167	0.28604	B	0.053	0.25678	B	0.000938	0.41028	N	0.278369	0.762	0.34052	D	1.355	0.33814	L	-2.21	0.86963	D	-0.76	0.21215	N	0.136	0.13341	-0.6396	0.63163	T	0.355	0.71827	T	10	0.013747215	0.00291	T	0.048	0.62947	D	0.296	0.61616	.	.	0.165133752707	0.16062	0.6653518404285238	0.66472	0.0611966656962	0.06815	0.377578556538	0.21913	T	0.289694	0.66248	T	-0.306065	0.08099	T	-0.219202	0.52814	T	0.00611318737558685	0.00067	T	0.875013	0.58582	D	0.044770338	0.07213	0.06384739	0.12709	0.044770338	0.07212	0.06384739	0.12709	-5.208	0.39023	T	0.13423978672886142	0.14482	0.092	0.13597	B	.	.	1.166586	0.15557	11.94	0.72634597587762961	0.10042	0.22660	0.21821	N	AEFDBHCIJ	0.530559	0.55120	D	-0.929338681107373	0.10160	0.4842188	-0.888205390382292	0.12372	0.6360725	0.999998993104163	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.645665	0.59343	0	.	.	4.45	2.05	0.25860	0.256000	0.18120	-1.133000	0.06232	-0.978000	0.01909	0.184000	0.24113	0.000000	0.08366	0.379000	0.26312	0.3004:0.439:0.0:0.2606	3.669	0.07801	675	0.60470	HhH-GPD domain|HhH-GPD domain|HhH-GPD 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	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1189.43	35	chr16	2040212	.	C	T	1189.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.3;DP=413;ExcessHet=0;FS=1.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.382;SOR=0.927	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1201,0,1220	9	0	1	0
chr16	2115565	2115565	G	A	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon10:c.C1910T:p.A637V,PKD1:NM_001009944:exon10:c.C1910T:p.A637V	Polycystic kidney disease, adult type I, Autosomal dominant	511	978	33	0	0	33	0.0165913	.	.	.	1867778	Polycystic_kidney_disease,_adult_type	MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.0534633280181	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1324355778	4.171e-06	0.0001	6.913e-06	1.398e-06	1.819e-06	1.5e-06	9.9e-07	3e-07	1.1e-07	0	0	3.886e-05	0	5.971e-05	0	1.819e-06	0	0	2.655e-05	0.0003	1.297e-05	4.08e-05	0.0002	8.2e-06	5.18e-06	.	.	2.445e-05	0	6.594e-05	0	0	0	0	1.484e-05	0	0.0002	0.546	0.06669	T	1.0	0.01155	T	0.007	0.14184	B	0.004	0.12133	B	0.431197	0.12746	N	0.741456	1	0.08975	N	0.64	0.16041	N	1.3	0.35590	T	-0.32	0.12283	N	0.066	0.03841	-0.9771	0.35660	T	0.051	0.21883	T	10	0.047445476	0.04062	T	0.053463	0.65479	D	0.013	0.01715	0.209	0.12639	0.340919117937	0.33698	0.20406219076281423	0.20323	.	.	0.288482248783	0.08702	T	0.152567	0.49302	T	-0.323373	0.06626	T	-0.702279	0.05702	T	0.0417249462178994	0.04004	T	0.339066	0.07293	T	0.018118778	0.00334	0.028770795	0.01144	0.018118778	0.00334	0.028770795	0.01144	-4.194	0.26665	T	0.1049183383087965	0.08259	0.076	0.05845	B	.;.	.;.	-0.438832	0.02071	0.191	0.74349038070323958	0.10662	0.01644	0.05287	N	AEFBI	0.049109	0.08451	N	-1.78608120196869	0.00580	0.02499262	-1.83827809865499	0.00644	0.02863882	0.348052764701403	0.19653	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.9	-3.83	0.03988	-0.439000	0.06967	0.727000	0.21057	-1.633000	0.00850	0.000000	0.06391	0.003000	0.18671	0.000000	0.00833	0.434:0.0934:0.4726:0.0	9.138	0.36047	650	0.62973	Polycystin cation channel;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	54.67	39	chr16	2115565	.	G	A	54.67	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.61;DP=571;ExcessHet=0;FS=22.421;InbreedingCoeff=-0.0686;MLEAC=1;MLEAF=0.05;MQ=51.81;MQRankSum=-5.38;QD=0.64;ReadPosRankSum=-2.531;SOR=4.339	GT:AD:DP:GQ:PL	0/1:75,10:85:66:66,0,2001	9	0	1	0
chr16	3035213	3035213	A	G	splicing	BICDL2	NM_001103175:exon1:c.282+2T>C;NM_001369667:exon2:c.282+2T>C	.	.	.	441	1079	2	0	0	2	0.000925926	0.9989	0.824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0010	0	0	0	0	0.0030	0	0	0.0001876	29	154602	rs570632135	0.0023	0.0012	0.0025	0.0022	0.0058	0.0022	0.0022	0.0047	0.0043	0	0.0058	0.0102	0	0.0003	0.0049	0.0023	0.0025	0.0009	0.0023	0.0017	0.0026	0.0019	0.0042	0.0020	0.0018	0.0027	0.0022	0.0005	0	0.0042	0.0075	0	0	0.0976	0.0027	0.0062	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.224153	0.17429	T	-0.0908914	0.64094	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.217917	0.63779	24.6	0.98467094563200064	0.41814	0.72612	0.35535	D	AEFDBI	.	.	.	0.811022820546158	0.86791	9.000145	0.603376512871198	0.75186	6.265997	0.996787388318045	0.35006	0.090766	0.02384	0	0.085267	0.02369	0	0.129117	0.03641	0	0.075334	0.01956	0	0.795719	0.47073	4.8	4.8	0.61157	2.810000	0.47677	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.302000	0.24547	1.0:0.0:0.0:0.0	12.33	0.54358	768	0.49510	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	245.43	25	chr16	3035213	.	A	G	245.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.133;DP=319;ExcessHet=0;FS=8.869;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.22;ReadPosRankSum=0.906;SOR=0.096	GT:AD:DP:GQ:PL	0/1:21,13:34:99:257,0,622	9	0	1	0
chr16	3356511	3356511	G	T	exonic	OR2C1	.	nonsynonymous SNV	OR2C1:NM_012368:exon1:c.G571T:p.D191Y	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.00555258219733	0.0005	0.000998403	0.0006	0	0.0003	0	0	0.0006	0.0011	0.0013	0.0005175	80	154602	rs138530420	0.0004	0.0004	0.0004	0.0005	0.0049	0.0004	0.0004	0.0034	0.0030	0.0001	0.0005	0.0008	0	0	0.0049	0.0004	0.0006	0.0009	0.0004	0.0004	0.0003	0.0004	0.0015	0.0003	0.0003	0.0007	0.0005	7.215e-05	0	0.0005	0.0012	0	0	0	0.0005	0.0009	0.0015	0.024	0.47745	D	0.023	0.57104	D	0.998	0.73220	D	0.987	0.77487	D	0.015713	0.28172	N	0.165417	0.615932	0.32663	D	3.215	0.89331	M	8.38	0.00245	T	-8.1	0.96679	D	0.393	0.43417	-0.9972	0.30701	T	0.003	0.00800	T	10	0.0695509	0.09996	T	0.005553	0.14319	T	0.174	0.44019	.	.	0.435808882951	0.43200	0.3855630754278392	0.38471	0.410300165374	0.41817	0.469830542803	0.34657	T	0.007954	0.07319	T	-0.273985	0.11317	T	-0.216777	0.53046	T	0.21765734154906	0.21347	T	0.79802	0.44234	T	0.565846	0.70832	0.54012436	0.73422	0.565846	0.70833	0.54012436	0.73423	-9.389	0.70166	D	.	.	0.291	0.52243	B	.	.	2.913356	0.38653	20.8	0.98848097419547964	0.47237	0.40407	0.26430	N	AEFDGBCI	0.183071	0.31040	N	0.110839134781692	0.46969	2.929196	-0.094524997152766	0.35615	2.062692	0.0040434678740774	0.10393	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.87	3.92	0.44525	1.185000	0.31675	.	.	-0.214000	0.08267	0.496000	0.26925	1.000000	0.68203	0.082000	0.17360	0.0892:0.0:0.9108:0.0	11.228	0.48122	659	0.61982	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	0.005035	0.010101	0.006793	0.005848	0.000000	0.008621	0.003049	0.000000	0.05	3007.43	39	chr16	3356511	.	G	T	3007.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.382;DP=1040;ExcessHet=0;FS=5.357;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=1.21;SOR=0.403	GT:AD:DP:GQ:PL	0/1:73,112:185:99:3019,0,1714	9	0	1	0
chr16	3676038	3676038	C	G	exonic	TRAP1	.	nonsynonymous SNV	TRAP1:NM_001272049:exon6:c.G653C:p.R218P,TRAP1:NM_016292:exon7:c.G812C:p.R271P	.	423	1098	1	0	0	1	0.000455166	0.0001	0.01	.	1979066	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.589	0.119271420785	0.0002	.	5.02e-05	0.0003	0	0	0	1.515e-05	0.0022	0	3.88e-05	6	154602	rs201753276	1.37e-05	1.368e-05	1.908e-05	8.26e-06	0.0004	8.95e-06	7.27e-06	6.278e-05	2.59e-05	0.0001	0	0	0	0	0.0004	9.899e-06	3.316e-05	1.163e-05	3.942e-05	3.94e-05	3.854e-05	4.035e-05	7.24e-05	1.715e-05	1.129e-05	1.92e-05	1.032e-05	7.24e-05	0	0	0	0	0	0	2.94e-05	0.0005	0	0.017	0.53172	D	0.033	0.56192	D	0.367	0.34030	B	0.233	0.38358	B	0.005542	0.32703	N	0.307754	0.545515	0.31377	N	3.05	0.86762	M	-1.13	0.77719	T	-3.08	0.63323	D	0.735	0.74735	-0.1074	0.79929	T	0.447	0.78252	T	10	0.61315185	0.67557	D	0.119271	0.79954	D	0.589	0.83582	.	.	0.468420198123	0.46471	0.8401728920326386	0.83977	0.0286254250543	0.02943	0.276760280132	0.07045	T	0.296761	0.81403	T	-0.0399912	0.45950	T	-0.015786	0.69305	D	0.478856921195984	0.31855	T	0.955004	0.82846	D	0.8344396	0.86213	0.7256002	0.83792	0.8344396	0.86215	0.7256002	0.83793	-13.887	0.92684	D	0.4014342396724296	0.49318	0.706	0.81099	P	.;.;.;.	.;.;.;.	2.825638	0.37236	20.4	0.98378602487580902	0.40832	0.96282	0.68380	D	AEFDBI	0.818290	0.73958	D	-0.0918279266186418	0.37750	2.200813	-0.148683632657413	0.33459	1.914139	0.00328595136145704	0.10034	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.32	-0.157	0.12732	0.868000	0.27635	.	.	0.599000	0.40250	1.000000	0.71638	0.233000	0.23797	0.839000	0.39591	0.0:0.4317:0.0:0.5683	9.381	0.37478	637	0.64373	Heat shock protein Hsp90, N-terminal;Heat shock protein Hsp90, N-terminal;.;Heat shock protein Hsp90, 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	.	.	.	.	.	.	.	.	0.05	928.43	36	chr16	3676038	.	C	G	928.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.386;DP=396;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.417;SOR=0.76	GT:AD:DP:GQ:PL	0/1:40,39:79:99:940,0,987	9	0	1	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	.	.	.	.	.	.	.	.	0.5	1673.04	150	chr16	14582206	.	G	C	1673.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.707;DP=1877;ExcessHet=22.563;FS=418.632;InbreedingCoeff=-0.9999;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=2.08;SOR=13.119	GT:AD:DP:GQ:PL	0/1:96,55:151:99:200,0,1242	0	0	10	0
chr16	16202120	16202120	C	T	exonic	ABCC6	.	nonsynonymous SNV	ABCC6:NM_001171:exon9:c.G1057A:p.A353T,ABCC6:NM_001351800:exon9:c.G715A:p.A239T	Arterial calcification, generalized, of infancy, 2, Autosomal recessive;Pseudoxanthoma elasticum, Autosomal recessive;Pseudoxanthoma elasticum, forme fruste, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	2326261	Inborn_genetic_diseases|ABCC6-related_disorder	MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.673	0.188291925368	.	.	1.657e-05	0	0	0.0001	0	1.508e-05	0	0	1.29e-05	2	154602	rs774051128	3.489e-05	3.489e-05	3.948e-05	3.026e-05	4.473e-05	2.697e-05	2.438e-05	3.171e-05	2.836e-05	2.988e-05	4.473e-05	0	0	0	0	4.137e-05	3.312e-05	0	5.919e-05	5.91e-05	5.142e-05	6.731e-05	7.35e-05	3.08e-05	2.212e-05	2.846e-05	1.858e-05	7.25e-05	0	0	0	0	0	0	7.35e-05	0.0005	0	0.252	0.17014	T	0.274	0.79402	T	0.999	0.77913	D	0.919	0.65474	D	0.000392	0.44960	U	0.000000	0.999999	0.58761	D	2.315	0.66250	M	-2.65	0.90210	D	-1.58	0.38151	N	0.71	0.71321	0.601	0.91919	D	0.801	0.93277	D	10	0.8544613	0.84637	D	0.188292	0.85992	D	0.673	0.87917	0.639	0.77579	0.896066994403	0.89503	0.5415292122337574	0.54077	0.27866825025	0.30350	0.440644264221	0.30664	T	0.372808	0.73692	T	0.0422189	0.57335	T	0.00439597	0.70620	D	0.728581786155701	0.42136	D	0.848415	0.52967	T	0.22963	0.45704	0.32307294	0.58242	0.22963	0.45704	0.32307294	0.58241	-6.843	0.54962	T	0.3802779445111437	0.47479	0.147	0.32493	B	.;.	.;.	4.075215	0.60581	24.2	0.99815146033655189	0.89885	0.94283	0.60675	D	AEFGBI	0.716216	0.66812	D	0.361056504760059	0.59325	4.111067	0.248552932128243	0.52566	3.430739	0.999498416072276	0.40007	0.559995	0.30671	0	0.624146	0.53433	0	0.657636	0.52715	0	0.542086	0.14980	0	.	.	4.16	4.16	0.48138	7.197000	0.77336	1.722000	0.28267	0.585000	0.30472	1.000000	0.71638	0.914000	0.28189	0.262000	0.23568	0.0:1.0:0.0:0.0	13.457	0.60653	895	0.25842	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	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1343.43	38	chr16	16202120	.	C	T	1343.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.46;DP=430;ExcessHet=0;FS=5.849;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.54;MQRankSum=0.521;QD=11.29;ReadPosRankSum=-1.7;SOR=1.22	GT:AD:DP:GQ:PL	0/1:68,51:119:99:1355,0,1627	9	0	1	0
chr16	20845219	20845219	C	T	exonic	REXO5	.	nonsynonymous SNV	REXO5:NM_001144924:exon17:c.C2009T:p.P670L,REXO5:NM_001199053:exon18:c.C2102T:p.P701L,REXO5:NM_030941:exon18:c.C2102T:p.P701L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00349264016782	.	.	2.75e-05	0	0	0	0	5.006e-05	0	0	1.94e-05	3	154602	rs142000603	2.054e-05	2.052e-05	2.179e-05	1.927e-05	0.0001	1.457e-05	1.265e-05	3.984e-05	2.374e-05	0.0001	0	0	0	0	0	2.159e-05	1.657e-05	1.162e-05	1.314e-05	1.313e-05	2.569e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.539	0.06824	T	0.53	0.10103	T	0.0	0.02946	B	0.0	0.01387	B	0.375133	0.13469	N	0.712848	1	0.08975	N	.	.	.	2.02	0.28391	T	-1.55	0.37566	N	0.106	0.12770	-0.9961	0.31001	T	0.038	0.16246	T	10	0.052197576	0.05217	T	0.003493	0.07908	T	0.018	0.03083	0.443	0.49975	0.117506650769	0.11410	0.19861233141602894	0.19778	0.236198010474	0.26158	0.368113517761	0.20560	T	0.021426	0.16689	T	-0.405925	0.02116	T	-0.690409	0.06365	T	0.0141290202736855	0.00276	T	0.626337	0.24237	T	0.021010142	0.00683	0.029597774	0.01315	0.021010142	0.00683	0.029597774	0.01315	-3.485	0.16223	T	.	.	0.068	0.06617	B	.;.;.	.;.;.	-0.694584	0.01334	0.074	0.40073282988156178	0.02805	0.04043	0.09486	N	AEFDBI	0.024015	0.01422	N	-1.35185626575165	0.03106	0.1382061	-1.32817057691552	0.04070	0.1912109	0.958394461721843	0.28360	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.349732	0.05809	1	.	.	5.3	1.13	0.19758	0.126000	0.15597	-0.346000	0.09780	-2.284000	0.00327	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4851:0.3317:0.1831	5.125	0.14211	143	0.94301	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	950.43	34	chr16	20845219	.	C	T	950.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.28;DP=377;ExcessHet=0;FS=2.243;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=-0.999;SOR=0.446	GT:AD:DP:GQ:PL	0/1:31,34:65:99:962,0,853	9	0	1	0
chr16	21404236	21404236	C	-	splicing	NPIPB3	NM_130464:exon10:c.1691+1G>-;NM_130464:exon11:c.1692-1G>-	.	.	.	1479	15	0	28	0	56	0.651163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	0	.	.	0.0004528	70	154602	rs767458164	0.3333	0.0001	1.0000	0	0.5000	0.0592	0.0248	0.0888	0.0371	.	0.5000	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	306.67	2	chr16	21404235	.	GC	G	306.67	.	AC=6;AF=1;AN=6;DP=22;ExcessHet=0;FS=0;MLEAC=9;MLEAF=1;MQ=28.94;QD=30.22;SOR=4.407	GT:AD:DP:GQ:PL	1/1:0,2:2:6:75,6,0	0	3	0	7
chr16	21404765	21404765	G	A	exonic	NPIPB3	.	unknown	UNKNOWN	.	618	885	18	0	1	19	0.0100671	.	.	.	2337856	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.098	0.00120614649931	.	.	0	0	.	0	0	0	.	.	3.84e-05	1	26028	rs768349450	0.0040	0.0047	0.0040	0.0040	0.0119	0.0039	0.0039	0.0090	0.0080	0.0016	0.0027	0.0055	0	0.0016	0.0119	0.0046	0.0044	0.0013	0.0023	0.0019	0.0023	0.0023	0.0043	0.0019	0.0017	0.0024	0.0022	0.0007	0	0.0024	0.0048	0	0.0005	0	0.0031	0	0.0043	0.117	0.28271	T	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	3.47	0.00090	N	0.162	0.17002	-1.0678	0.09903	T	0.075	0.30272	T	6	0.006259799	0.00141	T	0.001206	0.01558	T	0.098	0.28162	.	.	0.043077524339	0.03247	0.0035688599784075687	0.00333	.	.	.	.	.	.	.	.	-0.272049	0.11529	T	-0.628556	0.10525	T	0.0054763198312066	0.00059	T	0.80432	0.45191	T	.	.	.	.	.	.	.	.	-4.837	0.35019	T	.	.	.	.	.	.	.	0.894295	0.12679	9.202	0.97614925085214155	0.34926	0.00074	0.00515	N	AEFI	0.025118	0.01664	N	-0.882074952185781	0.11269	0.5429317	-1.15361354934918	0.06703	0.3235538	2.0115546788153E-5	0.02871	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-1.271000	0.02936	-6.280000	0.01443	-1.093000	0.01529	0.016000	0.19238	0.000000	0.08366	0.021000	0.11733	.	.	.	878	0.29785	.	.	.	.	.	.	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	0.011662	0.011905	0.000000	0.041667	0.000000	0.000000	0.000000	0.024390	0.05	886.43	52	chr16	21404765	.	G	A	886.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.29;DP=484;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=29.28;MQRankSum=-3.567;QD=8.06;ReadPosRankSum=1.29;SOR=0.665	GT:AD:DP:GQ:PL	0/1:66,44:110:99:898,0,1490	9	0	1	0
chr16	24939524	24939524	C	T	exonic	ARHGAP17	.	nonsynonymous SNV	ARHGAP17:NM_001006634:exon17:c.G1564A:p.A522T	.	424	1009	86	3	0	92	0.0436019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0042	0.00479233	0.0078	0.0012	0.0039	0.0034	0.0014	0.0048	0.0151	0.0298	0.005388	833	154602	rs145791095	0.0050	0.0051	0.0043	0.0058	0.0296	0.0050	0.0049	0.0260	0.0246	0.0009	0.0049	0.0052	0.0016	0.0007	0.0296	0.0037	0.0066	0.0254	0.0041	0.0041	0.0037	0.0046	0.0220	0.0039	0.0038	0.0186	0.0173	0.0007	0	0.0060	0.0066	0.0021	0.0008	0.0306	0.0048	0.0104	0.0220	0.149	0.24758	T	0.306	0.19972	T	0.112	0.26290	B	0.01	0.14941	B	0.000482	0.43931	D	0.000000	0.984898	0.81001	D	0.835	0.21042	L	1.98	0.21865	T	-1.04	0.27259	N	0.234	0.26354	-1.0936	0.04959	T	0.031	0.13374	T	10	0.0037225187	0.00069	T	.	.	.	0.038	0.09825	.	.	0.322865848456	0.31899	0.30575841589917707	0.30488	0.0463152719668	0.05031	0.466221213341	0.34163	T	0.021479	0.16719	T	-0.577036	0.00201	T	-0.582724	0.14303	T	0.00726477508042566	0.00083	T	0.868913	0.57225	D	0.033290282	0.03517	0.05217492	0.08543	0.033290282	0.03517	0.05217492	0.08542	-3.364	0.14576	T	.	.	0.088	0.11845	B	.	.	2.853543	0.37683	20.6	0.99472172580248386	0.66419	0.80469	0.40098	D	AEFDBCI	0.103871	0.20799	N	-0.230510946799875	0.31887	1.792617	-0.143599984541642	0.33655	1.92746	0.021104402275387	0.13320	0.706548	0.73137	0	0.379588	0.06130	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.0	3.05	0.34272	2.965000	0.48892	4.856000	0.45423	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.839000	0.39591	0.0:0.7263:0.0:0.2737	6.989	0.23922	637	0.64373	.	.	.	.	.	.	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	0.028254	0.010204	0.027174	0.038012	0.000000	0.025862	0.036810	0.022727	0.05	1272.43	34	chr16	24939524	.	C	T	1272.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.13;DP=435;ExcessHet=0;FS=0.681;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-1.875;SOR=0.819	GT:AD:DP:GQ:PL	0/1:76,53:129:99:1284,0,1834	9	0	1	0
chr16	29383301	29383301	T	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.A1631G:p.H544R	.	539	915	66	2	0	70	0.0368421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.102607754237	.	.	0.0034	0.0006	0.0027	0.0010	0.0051	0.0041	0.0070	0.0029	0.0001153	3	26028	rs376109229	0.0004	0.0045	0.0004	0.0004	0.0008	0.0004	0.0004	0.0004	0.0004	0.0002	0.0006	0.0016	0.0002	0.0011	0.0008	0.0003	0.0005	0.0006	0.0008	0.0028	0.0007	0.0008	0.0010	0.0006	0.0006	0.0008	0.0007	0.0004	0	0.0010	0.0004	0	0.0010	0.0052	0.0010	0.0006	0.0003	0.714	0.03996	T	0.893	0.03108	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.49	0.02651	N	2.37	0.15964	T	0.3	0.04091	N	0.065	0.03726	-0.9529	0.40468	T	0.015	0.06282	T	4	0.010405421	0.00232	T	0.102608	0.77617	D	0.123	0.34020	0.182	0.09004	0.0666544352282	0.05500	0.017460914292579344	0.01701	.	.	.	.	.	0.002187	0.01585	T	-0.441885	0.01260	T	-0.872514	0.00719	T	0.00853633190419786	0.00104	T	0.472453	0.14032	T	0.05944767	0.12081	0.08600925	0.19898	0.05944767	0.12081	0.08600925	0.19897	0.7	0.00176	T	.	.	0.119	0.24498	B	.	.	-0.050767	0.03944	0.880	0.27293411967531173	0.01348	0.00096	0.00628	N	AEFI	0.029149	0.02698	N	-0.519074859421896	0.21463	1.139253	-0.565229626340505	0.20402	1.099045	1.09648973830877E-6	0.01202	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	.	.	.	-1.331000	0.02779	-1.556000	0.05178	-0.897000	0.02353	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	774	0.48577	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	262.45	33	chr16	29383301	.	T	C	262.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.962;DP=962;ExcessHet=0.7463;FS=13.835;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=51.24;MQRankSum=-0.81;QD=0.57;ReadPosRankSum=-5.196;SOR=2.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,13:151:76:0|1:29383231_G_T:76,0,5552:29383231	7	0	3	0
chr16	29810106	29810114	GCAGCGGCA	-	exonic	MAZ	.	nonframeshift deletion	MAZ:NM_001276276:exon3:c.394_402del:p.A141_A143del,MAZ:NM_002383:exon5:c.1309_1317del:p.A446_A448del,MAZ:NM_001276275:exon6:c.1240_1248del:p.A423_A425del	.	329	1048	62	5	78	150	0.0332103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0125	.	0.0097	0.0014	0.0019	0.0059	0.0005	0.0013	0.015	0.0587	3.23e-05	5	154602	rs760562143	0.0044	0.0044	0.0028	0.0060	0.0564	0.0043	0.0043	0.0550	0.0545	0.0009	0.0018	0.0003	0.0031	0.0009	0.0146	0.0009	0.0055	0.0564	0.0034	0.0034	0.0026	0.0042	0.0571	0.0032	0.0031	0.0514	0.0492	0.0010	0	0.0032	0	0.0063	0.0009	0.0252	0.0014	0.0063	0.0571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	5807.41	35	chr16	29810105	.	GGCAGCGGCA	G	5807.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.402;DP=612;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=17.23;ReadPosRankSum=0.509;SOR=0.706	GT:AD:DP:GQ:PL	0/1:59,47:106:99:1714,0,2276	7	0	3	0
chr16	31916369	31916369	G	A	exonic	ZNF267	.	nonsynonymous SNV	ZNF267:NM_003414:exon4:c.G2120A:p.R707Q,ZNF267:NM_001265588:exon5:c.G2024A:p.R675Q	.	432	1077	11	2	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000816012745926	0.0014	0.000798722	0.0016	0.0002	0.0011	0.0001	0	0.0024	0.0022	0.0010	0.0014877	230	154602	rs146914846	0.0012	0.0012	0.0012	0.0012	0.0049	0.0012	0.0011	0.0035	0.0030	0.0002	0.0013	0.0144	5.042e-05	9.364e-05	0.0049	0.0009	0.0022	0.0012	0.0012	0.0012	0.0010	0.0014	0.0021	0.0011	0.0010	0.0015	0.0013	0.0004	0	0.0021	0.0122	0	0	0.0104	0.0011	0.0029	0.0017	0.851	0.02732	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999777	0.20412	N	-0.195	0.04202	N	2.26	0.17596	T	0.1	0.05810	N	0.039	0.01274	-0.9207	0.45458	T	0.010	0.03537	T	9	0.0035986304	0.00065	T	8.16E-4	0.00649	T	0.018	0.03083	.	.	0.0611884634855	0.05136	0.021880521238061168	0.02140	0.147075874367	0.16591	0.206648498774	0.00677	T	0.002559	0.01954	T	-0.687862	0.00043	T	-0.78547	0.02292	T	7.20058960723691e-05	0.00001	T	0.433057	0.11799	T	0.015028422	0.00119	0.028979275	0.01186	0.015028422	0.00119	0.028979275	0.01186	-0.836	0.00835	T	.	.	0.085	0.10400	B	.	.	0.543270	0.09120	5.902	0.47951912305285999	0.03962	0.00001	0.00044	N	AEFDBHCI	0.019052	0.00628	N	-1.80176376856197	0.00541	0.02328854	-1.82422774107859	0.00685	0.03046993	0.939816240523632	0.27404	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	0.468	-0.935	0.09893	0.083000	0.14718	.	.	-0.440000	0.05175	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.7045:0.0:0.2955:0.0	4.188	0.09869	680	0.59965	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	0.005035	0.000000	0.005435	0.005848	0.050000	0.000000	0.009146	0.003788	0.05	1744.43	46	chr16	31916369	.	G	A	1744.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=486;ExcessHet=0;FS=5.867;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=-1.303;SOR=1.156	GT:AD:DP:GQ:PL	0/1:51,63:114:99:1756,0,1265	9	0	1	0
chr16	50105060	50105063	AAAC	-	exonic	HEATR3	.	nonframeshift deletion	HEATR3:NM_001329731:exon14:c.1349_1352del:p.*450*,HEATR3:NM_182922:exon15:c.2042_2045del:p.*681*,HEATR3:NM_001329729:exon16:c.1691_1694del:p.*564*,HEATR3:NM_001329730:exon16:c.1691_1694del:p.*564*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	2.478e-05	0	0	0	0	4.504e-05	0	0	1.94e-05	3	154602	rs777013978	1.991e-05	1.984e-05	2.185e-05	1.795e-05	2.526e-05	1.397e-05	1.208e-05	1.665e-05	1.427e-05	0	0	0	2.526e-05	1.875e-05	0	2.431e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	789.39	33	chr16	50105059	.	TAAAC	T	789.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.77;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=2.64;SOR=0.68	GT:AD:DP:GQ:PL	0/1:27,21:48:99:801,0,1070	9	0	1	0
chr16	56474875	56474875	G	A	exonic	OGFOD1	.	nonsynonymous SNV	OGFOD1:NM_001324363:exon10:c.G1219A:p.G407S,OGFOD1:NM_001324357:exon11:c.G1330A:p.G444S,OGFOD1:NM_001324358:exon11:c.G1168A:p.G390S,OGFOD1:NM_001324359:exon11:c.G1042A:p.G348S,OGFOD1:NM_001324360:exon11:c.G1042A:p.G348S,OGFOD1:NM_001324361:exon11:c.G1168A:p.G390S,OGFOD1:NM_001324362:exon11:c.G913A:p.G305S,OGFOD1:NM_018233:exon11:c.G1333A:p.G445S	.	429	1079	14	0	0	14	0.00644567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.030616256178	0.0003	0.000998403	0.0016	9.61e-05	8.643e-05	0.0001	0	0.0004	0	0.0100	0.001313	203	154602	rs201192199	0.0007	0.0007	0.0004	0.0009	0.0083	0.0006	0.0006	0.0078	0.0076	2.988e-05	0.0001	0.0010	0	7.49e-05	0.0035	0.0001	0.0006	0.0083	0.0004	0.0004	0.0003	0.0006	0.0073	0.0003	0.0003	0.0054	0.0047	7.241e-05	0	6.551e-05	0.0009	0.0002	0	0.0034	0.0003	0.0005	0.0073	0.09	0.32769	T	0.083	0.44702	T	1.0	0.90584	D	0.983	0.75793	D	0.000000	0.84330	D	0.042575	1	0.81001	D	3.07	0.87108	M	0.59	0.54540	T	-4.16	0.76740	D	0.59	0.61172	-0.3131	0.74617	T	0.404	0.75444	T	9	0.010893464	0.00241	T	0.030616	0.52889	D	.	.	.	.	0.765059256141	0.76291	0.7638008280963696	0.76328	0.564018394391	0.52809	0.555544734001	0.46638	T	0.370981	0.73542	T	-0.0952216	0.37213	T	0.0971252	0.76718	D	0.152972972280557	0.17338	T	0.881212	0.60266	D	0.44717592	0.63863	0.24130172	0.49525	0.44717592	0.63863	0.24130172	0.49524	-11.038	0.79866	D	.	.	0.187	0.55103	B	.;.	.;.	4.979493	0.82472	27.8	0.99829313550550036	0.91112	0.97839	0.77515	D	AEFBI	0.763273	0.70042	D	0.752781194552767	0.83087	7.926074	0.722701537171452	0.84103	8.199556	0.999996665720699	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	7.139000	0.76905	11.895000	0.99196	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.591000	0.31164	0.07:0.0:0.93:0.0	13.7	0.62081	443	0.79878	Oxoglutarate/iron-dependent oxygenase, C-terminal degradation domain;Oxoglutarate/iron-dependent oxygenase, C-terminal degradation 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	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.018939	0.05	878.43	33	chr16	56474875	.	G	A	878.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.2;DP=428;ExcessHet=0;FS=0.814;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.467;SOR=0.84	GT:AD:DP:GQ:PL	0/1:52,36:88:99:890,0,1184	9	0	1	0
chr16	56626498	56626498	T	A	exonic	MT1E	.	nonsynonymous SNV	MT1E:NM_001363555:exon2:c.T61A:p.C21S,MT1E:NM_175617:exon2:c.T61A:p.C21S	.	419	1091	12	0	0	12	0.00546946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	.	0.0002	0.00339457	0.0033	9.628e-05	0.0012	0.0001	0	0.0003	0.0011	0.0222	0.0028331	438	154602	rs138690474	0.0015	0.0015	0.0009	0.0021	0.0201	0.0014	0.0014	0.0193	0.0190	0.0001	0.0010	0.0007	2.519e-05	0	0.0045	0.0002	0.0016	0.0201	0.0006	0.0006	0.0003	0.0010	0.0137	0.0005	0.0005	0.0110	0.0101	4.811e-05	0	0.0008	0.0006	0.0004	0	0	0.0002	0	0.0137	0.027	0.91255	D	0.079	0.60972	T	0.975	0.77913	D	0.937	0.75477	D	0.000001	0.62929	U	0.000000	0.999999	0.81001	D	.	.	.	2.56	0.13673	T	-8.77	0.98823	D	0.76	0.75834	-1.0913	0.05319	T	0.081	0.31972	T	9	0.006744832	0.00153	T	.	.	.	0.227	0.52620	0.619	0.75347	0.102598925029	0.09809	0.5861247793983562	0.58542	0.440458745318	0.44055	0.398714601994	0.24889	T	0.341125	0.71006	T	-0.395493	0.02478	T	-0.323955	0.42138	T	0.134673288983119	0.15807	T	0.777622	0.81072	T	0.6333387	0.74476	0.5622324	0.74668	0.6333387	0.74477	0.5622324	0.74669	-11.293	0.81240	D	.	.	0.644	0.76860	P	.;.	.;.	3.615058	0.51130	23.0	0.99146362494053941	0.53682	0.84229	0.43312	D	AEFBHCI	0.905708	0.85757	D	0.210901993531115	0.51727	3.351682	0.0742076914678449	0.43257	2.631176	0.999999846499509	0.74766	0.542737	0.22433	0	0.609123	0.50646	0	0.503968	0.08637	0	0.638787	0.57140	0	.	.	2.43	2.43	0.28797	4.546000	0.60415	2.922000	0.35569	0.502000	0.22824	0.993000	0.37899	0.999000	0.35428	0.984000	0.60418	0.0:0.0:0.0:1.0	8.310	0.31226	854	0.34840	Metallothionein, vertebrate, metal binding site;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002114	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.007576	0.05	3435.43	37	chr16	56626498	.	T	A	3435.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=649;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.89;MQRankSum=0.913;QD=11.15;ReadPosRankSum=0.964;SOR=0.718	GT:AD:DP:GQ:PL	0/1:169,139:308:99:3447,0,4360	9	0	1	0
chr16	56983616	56983616	T	C	exonic	CETP	.	nonsynonymous SNV	CETP:NM_001286085:exon15:c.T1252C:p.F418L,CETP:NM_000078:exon16:c.T1432C:p.F478L	Hyperalphalipoproteinemia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3135097	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.250	0.227938323683	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs770051789	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.91255	D	0.012	0.64786	D	0.79	0.51611	P	0.642	0.52168	P	0.000001	0.62929	U	0.000000	0.925261	0.37396	D	2.485	0.72352	M	3.1	0.08283	T	-1.15	0.40082	N	0.415	0.51940	-1.0278	0.21168	T	0.019	0.08173	T	10	0.6979034	0.72259	D	0.227938	0.88114	D	0.250	0.55888	0.776	0.90157	0.458554320643	0.45480	0.7544315395468443	0.75390	0.650144167134	0.58303	0.518054306507	0.41352	T	0.153788	0.49480	T	-0.0774207	0.40132	T	-0.348986	0.39322	T	0.869916379451752	0.51984	D	0.768523	0.39806	T	0.6924481	0.77644	0.26878384	0.52752	0.6924481	0.77646	0.26878384	0.52751	-4.025	0.28775	T	.	.	0.949	0.86772	P	.;.;.	.;.;.	3.050575	0.40926	21.3	0.99548891490410818	0.71023	0.77493	0.38108	D	AEFDGBHCI	0.515133	0.54222	D	-0.147478556115635	0.35342	2.028783	-0.175409578441201	0.32444	1.845839	0.999999928117312	0.74766	0.729952	0.87565	0	0.585951	0.33947	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	3.13	3.13	0.35090	2.973000	0.48956	3.173000	0.36621	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.221000	0.22489	0.0:0.0:0.0:1.0	7.966	0.29257	856	0.34373	Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	849.43	34	chr16	56983616	.	T	C	849.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.313;DP=434;ExcessHet=0;FS=4.151;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-2.164;SOR=0.989	GT:AD:DP:GQ:PL	0/1:51,36:87:99:861,0,1262	9	0	1	0
chr16	57813723	57813723	T	0	exonic	LOC388282	.	.	.	.	519	727	164	25	87	301	0.128297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1196.74	37	chr16	57813723	.	T	*	1196.74	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.254;DP=514;ExcessHet=0.7463;FS=3.452;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=4.73;ReadPosRankSum=0.44;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,42:97:99:.:.:1608,0,2173:.	8	0	2	0
chr16	66910357	66910357	G	C	exonic	CDH16	.	nonsynonymous SNV	CDH16:NM_001204746:exon14:c.C1779G:p.S593R,CDH16:NM_001204744:exon15:c.C2004G:p.S668R,CDH16:NM_001204745:exon15:c.C1953G:p.S651R,CDH16:NM_004062:exon15:c.C2070G:p.S690R	.	409	1106	7	0	0	7	0.00315457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00656485136569	0.0016	0.000399361	0.0020	0	0.0003	0	0.0002	0.0032	0.0022	0.0012	0.0018564	287	154602	rs142042494	0.0015	0.0015	0.0015	0.0016	0.0017	0.0015	0.0015	0.0010	0.0009	5.974e-05	0.0005	0.0421	0	5.616e-05	0.0017	0.0007	0.0038	0.0012	0.0015	0.0015	0.0017	0.0014	0.0012	0.0014	0.0013	0.0008	0.0007	0.0002	0	0.0005	0.0403	0	0	0	0.0010	0.0024	0.0012	0.145	0.30800	T	0.478	0.18018	T	0.005	0.17086	B	0.004	0.16012	B	0.123516	0.18915	N	0.565925	0.999999	0.08975	N	1.295	0.32453	L	0.52	0.55266	T	-1.62	0.40468	N	0.154	0.42834	-1.0789	0.07563	T	0.063	0.26172	T	10	0.0035610795	0.00064	T	0.006565	0.17301	T	0.072	0.21020	0.476	0.55342	0.195762928549	0.19159	0.7846424074103809	0.78415	0.0759756441061	0.08528	0.292147934437	0.09236	T	0.037705	0.24575	T	-0.467596	0.00880	T	-0.484979	0.23919	T	0.0298016909356287	0.01959	T	0.738226	0.36288	T	0.09034356	0.21138	0.083741546	0.19212	0.09034356	0.21138	0.083741546	0.19212	-4.9	0.43066	T	.	.	0.111	0.21390	B	.;.;.;.;.	.;.;.;.;.	-1.478418	0.00308	0.005	0.89815605114033514	0.19126	0.02242	0.06502	N	AEFBCI	0.062101	0.11917	N	-1.52300796265902	0.01699	0.07436499	-1.6668005320288	0.01291	0.05824722	0.999994665291832	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.9	-9.8	0.00408	-2.437000	0.01094	-3.087000	0.03073	-1.670000	0.00801	0.000000	0.06391	0.000000	0.08366	0.278000	0.23967	0.2986:0.2914:0.2141:0.196	0.720	0.00879	109	0.95526	.;.;.;.;.	.	.	.	.	.	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	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	1942.43	37	chr16	66910357	.	G	C	1942.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.876;DP=457;ExcessHet=0;FS=6.825;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=-1.407;SOR=0.33	GT:AD:DP:GQ:PL	0/1:50,80:130:99:1954,0,1168	9	0	1	0
chr16	67286908	67286908	C	T	exonic	PLEKHG4	.	nonsynonymous SNV	PLEKHG4:NM_001129731:exon15:c.C2671T:p.R891C,PLEKHG4:NM_001129728:exon17:c.C2914T:p.R972C,PLEKHG4:NM_001129729:exon17:c.C2914T:p.R972C,PLEKHG4:NM_001129727:exon18:c.C2914T:p.R972C	.	1	1508	13	0	0	13	0.00429185	.	.	.	2808035	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.313	0.0362873754147	0.0017	0.00119808	0.0022	9.653e-05	0.0005	0.0006	0	0.0034	0.0033	0.0013	0.0020051	310	154602	rs80024062	0.0017	0.0017	0.0016	0.0017	0.0014	0.0016	0.0016	0.0012	0.0011	2.987e-05	0.0006	0.0424	0.0006	0	0.0014	0.0009	0.0039	0.0014	0.0017	0.0017	0.0018	0.0015	0.0019	0.0015	0.0014	0.0010	0.0008	0.0002	0	0.0005	0.0407	0.0019	0	0	0.0010	0.0033	0.0017	0.08	0.33585	T	0.003	0.79402	D	1.0	0.90584	D	0.983	0.75793	D	0.005064	0.33125	N	0.000000	0.999989	0.54805	D	1.745	0.45235	L	2.74	0.11730	T	-5.67	0.87143	D	0.658	0.66787	-1.1140	0.02748	T	0.069	0.28346	T	10	0.01246953	0.00268	T	0.036287	0.56894	D	0.313	0.63482	.	.	0.430239905395	0.42638	0.4733310284293918	0.47252	0.391337161651	0.40333	0.352769613266	0.18329	T	0.235184	0.60238	T	-0.398748	0.02360	T	-0.380928	0.35614	T	0.0934425777524848	0.11620	T	0.924308	0.72323	D	0.24664463	0.47635	0.23321064	0.48504	0.24664463	0.47635	0.23321064	0.48503	-6.723	0.51984	T	.	.	0.13	0.27910	B	.;.;.;.	.;.;.;.	5.100168	0.85214	28.5	0.99628910391342329	0.75898	0.99001	0.89785	D	AEFBI	0.812245	0.73503	D	0.469128851146356	0.65298	4.804723	0.458770309501162	0.65284	4.804154	0.9999982697454	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.89	4.89	0.63387	4.896000	0.62911	6.033000	0.52942	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	17.387	0.87308	23	0.98420	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology 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	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	1308.43	35	chr16	67286908	.	C	T	1308.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.822;DP=446;ExcessHet=0;FS=2.333;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-1.194;SOR=0.92	GT:AD:DP:GQ:PL	0/1:68,54:122:99:1320,0,1757	9	0	1	0
chr16	70186513	70186513	G	A	exonic	CLEC18C	.	nonsynonymous SNV	CLEC18C:NM_173619:exon13:c.G1334A:p.G445E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0143982271018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.003	0.11197	B	0.003	0.08700	B	0.001136	0.40136	N	0.210248	0.776536	0.34214	D	.	.	.	2.29	0.17113	T	-0.85	0.23156	N	0.073	0.09207	-1.0297	0.20551	T	0.020	0.08266	T	10	0.111899555	0.20971	T	0.014398	0.34491	T	0.017	0.02790	0.362	0.36711	0.043077524339	0.03247	0.2362492020718356	0.23539	.	.	.	.	.	0.013268	0.11507	T	-0.284253	0.10222	T	-0.646086	0.09231	T	0.980816662311554	0.73564	D	0.555444	0.19245	T	0.14237525	0.32767	0.13539384	0.32419	0.14237525	0.32767	0.13539384	0.32418	-3.304	0.13789	T	.	.	0.079	0.13268	B	.;.;.;.;.	.;.;.;.;.	2.153244	0.27425	17.46	0.98049818796880206	0.37859	0.49909	0.28541	N	AEFI	0.087535	0.17749	N	-0.890840533252806	0.11059	0.5317142	-0.862251814470311	0.12993	0.6715797	1.28784963706343E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.34	0.68	0.17146	0.298000	0.18874	1.718000	0.28241	-0.131000	0.13161	0.135000	0.23427	0.932000	0.28569	0.022000	0.11911	0.429:0.0:0.571:0.0	5.458	0.15896	159	0.93837	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	203.54	24	chr16	70186513	.	G	A	203.54	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.907;DP=117;ExcessHet=0;FS=8.82;InbreedingCoeff=-0.0615;MLEAC=1;MLEAF=0.05;MQ=39.48;MQRankSum=0.357;QD=11.97;ReadPosRankSum=0.047;SOR=2.815	GT:AD:DP:GQ:PL	0/1:9,8:17:99:215,0,181	9	0	1	0
chr16	70860770	70860770	C	T	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon70:c.G11909A:p.R3970Q	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0547482160663	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422598365	1.641e-05	1.615e-05	2.177e-05	1.163e-05	2.425e-05	8.05e-06	5.1e-06	1.107e-05	7.48e-06	0	0	0	0	0	0	2.425e-05	0	1.994e-05	0	1.336e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.085	0.32769	T	.	.	.	.	.	.	.	.	.	0.285026	0.14874	U	0.386816	0.927093	0.27153	N	2.665	0.77964	M	5.6	0.00825	T	-1.28	0.32185	N	0.087	0.06454	-0.6250	0.63781	T	0.006	0.02093	T	10	0.13142127	0.25012	T	0.054748	0.65973	D	0.124	0.34239	0.354	0.35408	0.184867976434	0.18130	0.105312719122979	0.10461	.	.	0.273415893316	0.06591	T	0.053832	0.29555	T	-0.234906	0.16006	T	-0.575202	0.14976	T	0.711771786212921	0.41287	D	.	.	.	0.05666584	0.11178	0.10673401	0.25683	0.05666584	0.11177	0.10673401	0.25683	-3.722	0.19643	T	.	.	0.074	0.04975	B	.	.	1.476023	0.19009	14.04	0.97444048134579508	0.33992	0.28593	0.23596	N	AEFBI	0.077174	0.15543	N	-0.299588206416974	0.29165	1.614913	-0.376171106814629	0.25709	1.415504	0.999834147196504	0.43792	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.69	2.7	0.31007	0.305000	0.19006	0.417000	0.18177	-0.173000	0.11020	0.008000	0.17931	0.879000	0.27682	0.058000	0.15825	0.0:0.6369:0.2317:0.1315	8.670	0.33305	546	0.72524	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	278.51	15	chr16	70860770	.	C	T	278.51	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=95;ExcessHet=0;FS=0;InbreedingCoeff=-0.0592;MLEAC=1;MLEAF=0.05;MQ=38.9;MQRankSum=-0.253;QD=27.85;ReadPosRankSum=-1.834;SOR=2.303	GT:AD:DP:GQ:PL	0/1:2,8:10:36:290,0,36	9	0	1	0
chr16	75529834	75529834	C	T	exonic	CHST5	.	nonsynonymous SNV	CHST5:NM_024533:exon4:c.G551A:p.R184Q	.	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0003	0.00878594	0.0038	0.0003	8.687e-05	0.0493	0	0.0004	0	0.0004	0.0034217	529	154602	rs201072221	0.0014	0.0014	0.0015	0.0014	0.0455	0.0014	0.0014	0.0437	0.0430	0.0001	6.708e-05	0.0049	0.0455	1.887e-05	0.0002	3.508e-05	0.0014	0.0005	0.0020	0.0020	0.0017	0.0023	0.0463	0.0018	0.0017	0.0415	0.0396	0.0006	0	0	0.0066	0.0463	0	0	0.0001	0.0019	0.0004	0.216	0.19225	T	0.21	0.26714	T	0.005	0.12996	B	0.007	0.12992	B	0.649809	0.10524	N	0.826677	0.999994	0.08975	N	-1.5	0.00507	N	2.04	0.20808	T	1.44	0.00794	N	0.013	0.00142	-0.9723	0.36712	T	0.002	0.00738	T	10	0.0023937821	0.00035	T	.	.	.	0.013	0.01715	.	.	0.115124310173	0.11017	0.7242318950763952	0.72367	0.62670987278	0.56792	0.398848026991	0.24908	T	0.236311	0.60376	T	-0.747748	0.00018	T	-0.811094	0.01640	T	0.013097168104769	0.00230	T	0.288271	0.05202	T	0.04268367	0.06517	0.04367869	0.05487	0.04268367	0.06516	0.04367869	0.05487	-2.96	0.09757	T	.	.	0.065	0.01834	B	.	.	-0.304415	0.02599	0.321	0.94978707404366247	0.25915	0.05675	0.11592	N	AEFDBI	0.037381	0.05132	N	-1.20734050088809	0.04891	0.221759	-1.15610583721063	0.06659	0.3212649	7.13097638222214E-4	0.07685	0.487112	0.14033	0	0.573888	0.26702	0	0.0	0.00061	3	0.542086	0.14980	0	.	.	2.73	-2.18	0.06643	0.071000	0.14461	-2.492000	0.03688	-2.050000	0.00419	0.799000	0.29708	0.000000	0.08366	0.028000	0.12845	0.0:0.2386:0.1718:0.5896	4.304	0.10382	715	0.56137	Sulfotransferase 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	.	.	.	.	.	.	.	.	0.05	4474.43	35	chr16	75529834	.	C	T	4474.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.091;DP=1118;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.23;MQRankSum=-0.585;QD=7.58;ReadPosRankSum=1.24;SOR=0.681	GT:AD:DP:GQ:PL	0/1:382,208:590:99:4486,0,9501	9	0	1	0
chr16	77335835	77335835	C	T	exonic	ADAMTS18	.	nonsynonymous SNV	ADAMTS18:NM_001326358:exon12:c.G1264A:p.A422T,ADAMTS18:NM_199355:exon12:c.G1780A:p.A594T	Microcornea, myopic chorioretinal atrophy, and telecanthus, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	703831	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.090	.	0.0002	0.00299521	0.0027	0.0007	0.0234	0.0040	0	0.0001	0.0022	0	0.0024256	375	154602	rs140240513	0.0009	0.0009	0.0010	0.0008	0.0200	0.0009	0.0008	0.0189	0.0185	0.0006	0.0200	0	0.0075	1.872e-05	0	5.486e-05	0.0007	3.478e-05	0.0015	0.0015	0.0015	0.0015	0.0088	0.0013	0.0012	0.0076	0.0072	0.0013	0	0.0088	0	0.0031	0	0	0.0001	0.0038	0.0002	0.36	0.11919	T	0.482	0.11829	T	0.002	0.09854	B	0.005	0.11217	B	0.105205	0.19668	N	0.522971	1	0.08975	N	1.2	0.30300	L	4.3	0.02437	T	-0.32	0.12283	N	0.15	0.15328	-0.9623	0.38742	T	0.004	0.01192	T	10	0.009823471	0.00220	T	.	.	.	0.090	0.26093	.	.	0.229264304666	0.22521	0.1887787799816421	0.18795	.	.	0.228010326624	0.01824	T	0.009088	0.08297	T	-0.71181	0.00031	T	-0.778986	0.02484	T	0.00629070128854839	0.00070	T	0.592541	0.21854	T	0.066713065	0.14380	0.058924798	0.10974	0.066713065	0.14380	0.058924798	0.10973	-5.013	0.36981	T	.	.	0.067	0.02428	B	.	.	0.356498	0.07293	3.902	0.9838660609110873	0.40915	0.35691	0.25360	N	AEFDBCI	0.082100	0.16620	N	-0.989986746086175	0.08817	0.4148662	-0.992941509383779	0.09942	0.4977074	0.999984233753362	0.51787	0.562547	0.31514	0	0.573888	0.26702	0	0.535252	0.11790	0	0.635551	0.53088	0	.	.	5.74	-3.38	0.04577	0.116000	0.15393	-2.592000	0.03572	-0.171000	0.11205	0.002000	0.15269	0.000000	0.08366	0.791000	0.37352	0.3795:0.3545:0.0:0.266	4.648	0.11966	812	0.42537	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1986.43	33	chr16	77335835	.	C	T	1986.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.209;DP=483;ExcessHet=0;FS=1.893;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-0.026;SOR=0.865	GT:AD:DP:GQ:PL	0/1:85,86:171:99:1998,0,1912	9	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	0.05	1261.43	53	chr16	88805794	.	C	T	1261.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=882;ExcessHet=0;FS=5.65;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-1.351;SOR=1.2	GT:AD:DP:GQ:PL	0/1:73,51:124:99:1273,0,1732	9	0	1	0
chr16	88807362	88807362	C	T	exonic	CDT1	.	nonsynonymous SNV	CDT1:NM_030928:exon9:c.C1357T:p.R453W	Meier-Gorlin syndrome 4, Autosomal recessive	0	1503	17	2	0	21	0.00693756	.	.	.	429864	not_provided|not_specified|Meier-Gorlin_syndrome_4	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013431,MedGen:C3151120,OMIM:613804,Orphanet:2554	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.591	0.196229013514	0.0002	0.00119808	0.0015	0.0002	0.0004	0	0	0.0002	0.0024	0.0097	0.0012613	195	154602	rs200672589	0.0007	0.0007	0.0004	0.0010	0.0100	0.0007	0.0007	0.0095	0.0093	5.975e-05	0.0001	0	0	1.924e-05	0.0017	8.994e-05	0.0009	0.0100	0.0004	0.0004	0.0003	0.0006	0.0087	0.0003	0.0003	0.0066	0.0059	2.405e-05	0	6.532e-05	0	0	0	0	0.0002	0.0005	0.0087	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000011	0.62929	D	0.064498	0.994457	0.42288	D	3.04	0.86592	M	-1.89	0.84557	D	-6.96	0.93509	D	0.944	0.95139	0.236	0.86517	D	0.703	0.89779	D	10	0.044795364	0.03478	T	0.196229	0.86468	D	0.591	0.83691	.	.	0.966768201255	0.96641	0.692137122156209	0.69153	0.0957176713652	0.10811	0.487810194492	0.37135	T	0.678472	0.90533	D	0.0893022	0.63112	D	0.362749	0.90804	D	0.261758791827368	0.23392	T	0.907609	0.67324	D	0.8409009	0.86673	0.7466684	0.85026	0.8409009	0.86674	0.7466684	0.85027	-9.535	0.71076	D	0.8500032524423916	0.91640	0.141	0.30971	B	.	.	4.595256	0.72728	25.9	0.99750430590642192	0.84228	0.97147	0.72965	D	AEFDBHCI	0.482043	0.52308	N	0.00257246074425099	0.41972	2.520293	-0.209665185033156	0.31187	1.762707	0.999993722833189	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.48	0.746	0.17514	3.144000	0.50312	3.284000	0.37253	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.746000	0.35646	0.2042:0.5621:0.0992:0.1345	4.433	0.10959	824	0.40336	DNA replication factor Cdt1, 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	0.003528	0.005102	0.001359	0.002941	0.000000	0.000000	0.003049	0.015152	0.1	1481.14	33	chr16	88807362	.	C	T	1481.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.31;DP=400;ExcessHet=0.2348;FS=2.296;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.332;SOR=0.882	GT:AD:DP:GQ:PL	0/1:43,47:90:99:1131,0,946	8	0	2	0
chr16	89284161	89284161	A	G	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.T2381C:p.I794T,ANKRD11:NM_013275:exon9:c.T2381C:p.I794T,ANKRD11:NM_001256182:exon10:c.T2381C:p.I794T	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3802387	KBG_syndrome	MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00727015055541	.	.	8.591e-06	0	8.868e-05	0	0	0	0	0	6.5e-06	1	154602	rs759272573	1.377e-06	3.42e-06	1.369e-06	1.386e-06	4.661e-05	2.3e-07	9e-08	7.73e-06	2.89e-06	0	4.661e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.52	0.10465	T	0.0	0.02946	B	0.0	0.01387	B	0.473085	0.12254	N	0.748708	1	0.08975	N	-1.085	0.01025	N	1.34	0.34841	T	1.27	0.00985	N	0.046	0.02088	-1.0048	0.28517	T	0.024	0.10194	T	10	0.016104728	0.00339	T	0.00727	0.19280	T	0.018	0.03083	0.218	0.13932	0.102598925029	0.09809	3.480766670945786E-4	0.00031	0.108005847181	0.12179	0.323267638683	0.13916	T	0.061263	0.31607	T	-0.50949	0.00505	T	-0.78994	0.02166	T	0.0337778290875112	0.02601	T	0.126787	0.01303	T	0.020807045	0.00653	0.037021473	0.03266	0.020807045	0.00653	0.037021473	0.03266	-3.569	0.17410	T	0.0408067304843778	0.00374	0.07	0.06024	B	.;.;.;.	.;.;.;.	-0.089938	0.03702	0.755	0.29245769297825269	0.01541	0.12818	0.17497	N	AEDBI	0.048489	0.08280	N	-1.30269010940199	0.03644	0.1631694	-1.23211650683061	0.05401	0.257258	0.785011936865866	0.23914	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.43	-1.61	0.07951	0.642000	0.24426	0.839000	0.22025	-0.752000	0.03574	0.196000	0.24261	0.001000	0.17328	0.524000	0.29567	0.2653:0.2317:0.3836:0.1193	1.593	0.02498	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	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	511.05	100	chr16	89284161	.	A	G	511.05	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.69;DP=875;ExcessHet=1.5895;FS=276.627;InbreedingCoeff=-0.4635;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=0.605;SOR=9.044	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,26:104:96:.:.:96,0,1693:.	2	0	4	4
chr17	413815	413815	C	0	exonic	C17orf97	.	.	.	.	492	947	19	0	64	83	0.00993204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1298.87	21	chr17	413815	.	C	*	1298.87	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.79;DP=367;ExcessHet=4.5998;FS=0.586;InbreedingCoeff=-0.4286;MLEAC=3;MLEAF=0.15;MQ=48.19;MQRankSum=-1.487;QD=7.69;ReadPosRankSum=-0.374;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,31:36:45:.:.:770,0,45:.	7	0	3	0
chr17	413821	413825	CCCCG	0	exonic	C17orf97	.	.	.	.	468	989	60	4	1	69	0.0332356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	101.87	27	chr17	413821	.	CCCCG	*	101.87	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.75;DP=368;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.15;MQ=57.01;MQRankSum=-3.309;QD=0.8;ReadPosRankSum=0.705;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,31:36:45:.:.:770,0,45:.	7	0	3	0
chr17	413822	413822	C	0	exonic	C17orf97	.	.	.	.	509	931	17	0	65	82	0.00904737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1471.33	24	chr17	413822	.	C	*	1471.33	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.409;DP=372;ExcessHet=4.5998;FS=1.22;InbreedingCoeff=-0.4286;MLEAC=4;MLEAF=0.2;MQ=45.38;MQRankSum=1.5;QD=8.36;ReadPosRankSum=-0.803;SOR=0.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,31:36:45:.:.:770,0,45:.	6	0	4	0
chr17	413824	413824	C	0	exonic	C17orf97	.	.	.	.	487	954	61	4	16	85	0.0349014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1474.36	25	chr17	413824	.	C	*	1474.36	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.338;DP=372;ExcessHet=4.5998;FS=1.203;InbreedingCoeff=-0.4286;MLEAC=4;MLEAF=0.2;MQ=44.73;MQRankSum=1.75;QD=8.19;ReadPosRankSum=-0.836;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,31:36:45:.:.:770,0,45:.	6	0	4	0
chr17	413826	413836	ACCCCAAGGCC	0	exonic	C17orf97	.	.	.	.	483	974	60	4	1	69	0.0337302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	89.87	25	chr17	413826	.	ACCCCAAGGCC	*	89.87	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.198;DP=374;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.15;MQ=57.43;MQRankSum=-3.639;QD=0.69;ReadPosRankSum=0.62;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,31:36:45:.:.:770,0,45:.	7	0	3	0
chr17	413831	413831	A	0	exonic	C17orf97	.	.	.	.	725	697	61	4	35	104	0.0471634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	1428.57	27	chr17	413831	.	A	*	1428.57	.	AC=4;AF=0.222;AN=18;BaseQRankSum=0.855;DP=385;ExcessHet=5.3821;FS=0.556;InbreedingCoeff=-0.4815;MLEAC=4;MLEAF=0.222;MQ=45.68;MQRankSum=0.554;QD=7.64;ReadPosRankSum=-1.636;SOR=0.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,31:36:45:.:.:770,0,45:.	5	0	4	1
chr17	413838	413854	TCAAGGGCTTCCACCCC	0	exonic	C17orf97	.	.	.	.	529	930	58	4	1	67	0.0342679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	71.87	38	chr17	413838	.	TCAAGGGCTTCCACCCC	*	71.87	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.84;DP=387;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.15;MQ=57.25;MQRankSum=-3.407;QD=0.52;ReadPosRankSum=0.427;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,31:36:45:.:.:770,0,45:.	7	0	3	0
chr17	744916	744916	C	T	exonic	GEMIN4	.	nonsynonymous SNV	GEMIN4:NM_015721:exon2:c.G3127A:p.G1043S	.	.	.	.	.	.	.	.	.	.	.	2814643	not_provided|GEMIN4-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.072	0.00344471155881	0.0024	0.00279553	0.0008	0.0098	0.0002	0	0	0	0	0.0001	0.0007244	112	154602	rs180894698	0.0003	0.0003	0.0003	0.0002	0.0090	0.0002	0.0002	0.0082	0.0079	0.0090	0.0004	0	0	0	0	7.196e-06	0.0006	8.12e-05	0.0022	0.0022	0.0023	0.0022	0.0077	0.0020	0.0020	0.0071	0.0068	0.0077	0	0.0010	0	0.0002	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.006209	0.32193	N	0.368343	1	0.08975	N	0.06	0.08197	N	3.55	0.04746	T	0.98	0.01447	N	0.038	0.01203	-0.9641	0.38389	T	0.004	0.01226	T	10	0.0049390793	0.00106	T	0.003445	0.07755	T	0.072	0.21020	.	.	0.17258766438	0.16869	0.05355334966229155	0.05297	0.129374146952	0.14584	0.327751874924	0.14595	T	0.006348	0.05784	T	-0.688302	0.00043	T	-0.755218	0.03287	T	0.00093135008145573	0.00009	T	0.224478	0.02928	T	0.033393458	0.03550	0.04834895	0.07162	0.033237748	0.03502	0.046210635	0.06391	-2.37	0.04952	T	.	.	0.075	0.05360	B	.;.	.;.	0.641653	0.10099	6.848	0.69377064655943232	0.08952	0.03866	0.09228	N	AEFDBCI	0.035048	0.04446	N	-1.10336279348504	0.06584	0.3034603	-0.914550976608859	0.11750	0.6005589	0.0395787770605876	0.14400	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.71	4.61	0.56724	0.434000	0.21212	3.426000	0.38284	-0.108000	0.15293	0.024000	0.20007	1.000000	0.68203	0.278000	0.23967	0.0:0.2493:0.0:0.7507	8.227	0.30732	945	0.12563	.;.	.	.	.	.	.	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	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1850.43	34	chr17	744916	.	C	T	1850.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.467;DP=459;ExcessHet=0;FS=0.626;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=0.602;SOR=0.786	GT:AD:DP:GQ:PL	0/1:68,74:142:99:1862,0,1634	9	0	1	0
chr17	782397	782397	C	T	exonic	MRM3	.	nonsynonymous SNV	MRM3:NM_018146:exon1:c.C19T:p.P7S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00213158894818	0.0022	0.00179712	0.0006	0.0074	8.999e-05	0	0	0	0	6.176e-05	0.0005433	84	154602	rs149975218	0.0002	0.0002	0.0002	0.0002	0.0068	0.0002	0.0002	0.0061	0.0058	0.0068	0.0002	0	0	1.881e-05	0.0002	2.698e-06	0.0004	3.478e-05	0.0017	0.0017	0.0017	0.0016	0.0059	0.0015	0.0014	0.0053	0.0051	0.0059	0	0.0005	0	0	0	0	0	0	0	0.663	0.04657	T	0.757	0.04686	T	0.0	0.02946	B	0.0	0.01387	B	0.025675	0.26048	N	0.434761	1	0.08975	N	.	.	.	2.49	0.14531	T	1.34	0.00900	N	0.079	0.05414	-1.0129	0.26007	T	0.030	0.12760	T	10	0.003394097	0.00059	T	0.002132	0.03962	T	0.011	0.01250	.	.	0.0611884634855	0.05136	0.5166758964729985	0.51590	0.137368942111	0.15488	0.336435705423	0.15903	T	0.001647	0.01075	T	-0.701631	0.00036	T	-0.777174	0.02539	T	0.00375992577822089	0.00040	T	0.257774	0.04077	T	0.023002513	0.01004	0.04317593	0.05311	0.023002513	0.01004	0.04317593	0.05310	-2.833	0.08491	T	.	.	0.076	0.06114	B	.	.	-0.262970	0.02785	0.379	0.78107815795577329	0.12158	0.00472	0.02260	N	ALL	0.136060	0.25659	N	-0.941263837541655	0.09890	0.4701268	-1.0473856296736	0.08762	0.4323634	0.999999999999999	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.31	-1.99	0.07047	-0.510000	0.06411	-0.990000	0.06682	-1.988000	0.00457	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1565:0.3861:0.3453:0.1121	3.809	0.08306	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	.	.	.	.	.	.	.	.	0.05	2843.43	33	chr17	782397	.	C	T	2843.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=1002;ExcessHet=0;FS=1.692;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=0.242;SOR=0.752	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,109:207:99:0|1:782397_C_T:2855,0,3722:782397	9	0	1	0
chr17	1727213	1727213	C	T	exonic	WDR81	.	nonsynonymous SNV	WDR81:NM_001163809:exon1:c.C2254T:p.P752S	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, Autosomal recessive	0	1511	9	2	0	13	0.00428336	.	.	.	727020	not_provided|Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_2	MedGen:C3661900|MONDO:MONDO:0012430,MedGen:C2750234,OMIM:610185,Orphanet:1766	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.027	0.0124618513485	.	0.000998403	0.0019	0	0	0	0	0.0014	0.0056	0.0031	0.0004916	76	154602	rs200781463	0.0015	0.0014	0.0014	0.0015	0.0054	0.0014	0.0014	0.0039	0.0034	0.0002	0.0010	0.0035	0	0.0008	0.0054	0.0015	0.0014	0.0021	0.0012	0.0012	0.0010	0.0013	0.0029	0.0010	0.0010	0.0018	0.0014	0.0002	0	0.0010	0.0043	0	0.0008	0.0034	0.0016	0.0019	0.0029	0.403	0.10378	T	0.227	0.25362	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.695	0.17993	N	0.8	0.48769	T	-0.34	0.12661	N	0.075	0.04913	-1.0340	0.19173	T	0.076	0.30492	T	6	0.005992919	0.00134	T	0.012462	0.31052	T	0.027	0.05988	.	.	0.446010312102	0.44222	0.1618985332002978	0.16110	0.462113211876	0.45742	0.283152282238	0.07936	T	0.012492	0.10973	T	-0.532944	0.00369	T	-0.54479	0.17829	T	0.0131296711042523	0.00231	T	0.672833	0.28129	T	0.061643362	0.12789	0.0661384	0.13507	0.061643362	0.12789	0.0661384	0.13506	-5.004	0.36883	T	.	.	0.104	0.18828	B	.	.	1.260675	0.16584	12.63	0.70272724247983298	0.09241	0.20108	0.20918	N	AEFBI	0.158121	0.28373	N	-0.346179257426131	0.27413	1.503801	-0.389701120661279	0.25303	1.390671	0.972692414297421	0.29392	0.631515	0.41029	0	0.697927	0.68747	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	5.62	4.61	0.56724	1.170000	0.31493	1.801000	0.28882	0.599000	0.40250	0.001000	0.13787	0.041000	0.21590	0.317000	0.24900	0.1451:0.4879:0.367:0.0	10.161	0.42024	665	0.61472	.	.	.	.	.	.	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	0.006085	0.011111	0.004854	0.008333	0.000000	0.000000	0.000000	0.008197	0.05	759.43	61	chr17	1727213	.	C	T	759.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.227;DP=479;ExcessHet=0;FS=3.264;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-1.233;SOR=0.594	GT:AD:DP:GQ:PL	0/1:38,32:70:99:771,0,1037	9	0	1	0
chr17	2387556	2387556	T	G	exonic	MNT	.	nonsynonymous SNV	MNT:NM_020310:exon6:c.A1094C:p.K365T	.	417	1088	17	0	0	17	0.00775194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	.	.	0.0189696	0.0111	0.0003	0.0006	0.0026	0	0.0001	0.0088	0.0779	0.009573	1480	154602	rs140963967	0.0047	0.0047	0.0026	0.0069	0.0739	0.0046	0.0046	0.0724	0.0718	0.0001	0.0002	0.0001	0.0019	0	0.0023	7.824e-05	0.0059	0.0739	0.0026	0.0026	0.0014	0.0039	0.0760	0.0024	0.0023	0.0696	0.0671	4.816e-05	0	6.54e-05	0	0.0043	0	0	7.354e-05	0.0009	0.0760	0.177	0.22224	T	0.235	0.24767	T	0.998	0.73220	D	0.986	0.76916	D	0.002794	0.35935	N	0.188908	0.993833	0.42069	D	0.695	0.17993	N	-1.59	0.82076	D	-1.08	0.28084	N	0.052	0.02366	0.014	0.82537	D	0.528	0.82463	D	10	0.002190411	0.00032	T	.	.	.	0.313	0.63482	.	.	.	.	0.3892611903357194	0.38841	1.13919779569	0.78864	0.609677195549	0.54270	T	0.158332	0.50130	T	-0.455343	0.01050	T	-0.368493	0.37066	T	0.0251517122557525	0.01293	T	0.540046	0.18281	T	0.077902794	0.17710	0.060504477	0.11532	0.077902794	0.17709	0.060504477	0.11531	-2.527	0.05969	T	.	.	0.164	0.36154	B	.	.	3.879256	0.56368	23.7	0.99660588320479404	0.77883	0.90179	0.51154	D	AEFBCI	0.229499	0.35302	N	0.459268476442473	0.64732	4.734332	0.432427236862145	0.63595	4.596571	0.999798571502059	0.43153	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.69	4.69	0.58546	2.116000	0.41553	4.993000	0.46541	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.832000	0.39227	0.0:0.0:0.0:1.0	13.310	0.59815	701	0.57775	.	.	.	.	.	.	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	0.009567	0.005051	0.001359	0.002924	0.000000	0.017241	0.000000	0.037879	0.05	1041.43	34	chr17	2387556	.	T	G	1041.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.483;DP=432;ExcessHet=0;FS=4.792;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=-0.738;SOR=1.15	GT:AD:DP:GQ:PL	0/1:61,47:108:99:1053,0,1654	9	0	1	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	2999.71	129	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	2999.71	.	AC=12;AF=0.6;AN=20;BaseQRankSum=-2.686;DP=1317;ExcessHet=0.0952;FS=1.935;InbreedingCoeff=0.3407;MLEAC=12;MLEAF=0.6;MQ=59.44;MQRankSum=0.207;QD=3.86;ReadPosRankSum=-0.518;SOR=0.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:27,44:71:99:.:.:1347,0,600:.	3	5	2	0
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7222	1204.92	129	chr17	4933915	.	A	*	1204.92	.	AC=13;AF=0.722;AN=18;BaseQRankSum=-3.635;DP=1346;ExcessHet=1.8123;FS=4.609;InbreedingCoeff=-0.1556;MLEAC=14;MLEAF=0.778;MQ=59.67;MQRankSum=1.23;QD=1.34;ReadPosRankSum=-3.271;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:27,44:71:99:.:.:1347,0,600:.	1	5	3	1
chr17	6707135	6707135	T	C	exonic	SLC13A5	.	nonsynonymous SNV	SLC13A5:NM_001143838:exon2:c.A124G:p.I42V,SLC13A5:NM_001284509:exon2:c.A124G:p.I42V,SLC13A5:NM_177550:exon2:c.A124G:p.I42V	Epileptic encephalopathy, early infantile, 25, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0115125430183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.21304	T	0.31	0.25210	T	0.329	0.33227	B	0.437	0.45591	B	0.000000	0.84330	N	0.085895	0.998017	0.81001	D	1.19	0.30124	L	4.04	0.03121	T	-0.62	0.18248	N	0.321	0.38848	-0.8519	0.51837	T	0.013	0.04985	T	10	0.15944508	0.29958	T	0.011513	0.29207	T	0.134	0.36365	0.522	0.62518	0.313210971179	0.30940	0.42086618264418346	0.42002	0.2501032942	0.27591	0.424964904785	0.28520	T	0.109445	0.42332	T	-0.169951	0.25242	T	-0.4819	0.24244	T	0.407440274953842	0.29222	T	0.816518	0.47426	T	0.09399844	0.22091	0.11753781	0.28373	0.09399844	0.22091	0.11753781	0.28372	-4.2	0.28414	T	0.18332288541525327	0.23726	0.096	0.31532	B	.;.;.	.;.;.	2.352183	0.30154	18.35	0.94365882124775891	0.24726	0.80044	0.39789	D	AEFDBCI	0.369692	0.45633	N	-0.322972037126395	0.28278	1.558384	-0.194155532616306	0.31751	1.799816	0.215747925061085	0.18295	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.4	3.15	0.35301	2.593000	0.45845	0.594000	0.19852	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0801:0.151:0.769	6.904	0.23478	812	0.42537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	522.45	140	chr17	6707135	.	T	C	522.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-4.368;DP=1058;ExcessHet=0.7463;FS=128.46;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=0.637;SOR=9.657	GT:AD:DP:GQ:PL	0/1:114,30:144:99:107,0,3489	7	0	3	0
chr17	7078084	7078084	G	A	exonic	CLEC10A	.	nonsynonymous SNV	CLEC10A:NM_001330070:exon3:c.C97T:p.R33C,CLEC10A:NM_006344:exon3:c.C97T:p.R33C,CLEC10A:NM_182906:exon3:c.C97T:p.R33C	.	414	1085	21	2	0	25	0.0113895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.022138676889	0.0035	0.00199681	0.0038	0.0011	0.0027	0.0001	0.0012	0.0036	0.0033	0.0098	0.003771	583	154602	rs78714016	0.0054	0.0054	0.0051	0.0056	0.0099	0.0053	0.0052	0.0094	0.0092	0.0009	0.0021	0.0036	5.039e-05	0.0017	0.0090	0.0057	0.0051	0.0099	0.0033	0.0033	0.0032	0.0034	0.0099	0.0030	0.0030	0.0077	0.0069	0.0009	0	0.0025	0.0032	0.0002	0.0018	0.0068	0.0050	0.0024	0.0099	0.001	0.78490	D	0.002	0.83351	D	0.996	0.90584	D	0.659	0.60472	P	0.040492	0.01878	N	2.091170	1	0.08975	N	2.55	0.74443	M	1.32	0.35219	T	-4.9	0.81595	D	0.23	0.35088	-1.0647	0.10619	T	0.145	0.46895	T	10	0.022438228	0.00560	T	0.022139	0.44997	T	0.107	0.30369	.	.	0.649400186836	0.64648	0.15275164685735493	0.15197	0.940815711379	0.72194	0.215233206749	0.01053	T	0.04285	0.26316	T	-0.486581	0.00679	T	-0.46404	0.26160	T	0.0444136846555577	0.04495	T	0.305369	0.49484	T	0.26619068	0.49689	0.16243555	0.37732	0.26619068	0.49688	0.16243555	0.37731	-7.441	0.57194	T	.	.	0.103	0.19357	B	.;.;.;.	.;.;.;.	2.350139	0.30131	18.34	0.99768695954374487	0.85666	0.02221	0.06462	N	AEFDBI	0.133994	0.25384	N	-0.251171184349336	0.31057	1.738	-0.490412490155215	0.22416	1.217445	0.0202370754940308	0.13238	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.43	1.13	0.19758	-0.097000	0.11010	-1.841000	0.04629	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0997:0.0:0.5512:0.3491	5.242	0.14795	572	0.70300	.;.;.;.	.	.	.	.	.	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	0.006042	0.000000	0.002717	0.002924	0.000000	0.017241	0.003049	0.022727	0.05	920.43	39	chr17	7078084	.	G	A	920.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.794;DP=427;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=1.2;SOR=0.807	GT:AD:DP:GQ:PL	0/1:28,34:62:99:932,0,1033	9	0	1	0
chr17	7427127	7427127	G	A	exonic	SPEM2	.	nonsynonymous SNV	SPEM2:NM_175734:exon3:c.G1136A:p.R379H	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.00505954752809	.	.	5.178e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs201460109	4.18e-05	4.241e-05	2.726e-05	5.649e-05	0.0006	3.316e-05	3.006e-05	0.0004	0.0004	0	2.246e-05	0	2.52e-05	0	0	8.099e-06	3.317e-05	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.222249	0.16111	N	0.482650	1	0.08975	N	.	.	.	1.65	0.27650	T	4.8	0.00027	N	0.153	0.15749	-0.9726	0.36648	T	0.020	0.08546	T	10	0.020009875	0.00455	T	0.00506	0.12815	T	0.100	0.28662	0.195	0.10705	0.170165803431	0.16609	0.02918020233119927	0.02867	0.21794921711	0.24331	.	.	.	0.001447	0.00900	T	-0.483691	0.00704	T	-0.602564	0.12597	T	0.0450367745678754	0.04608	T	.	.	.	0.02324199	0.01048	0.03491378	0.02644	0.02324199	0.01048	0.03491378	0.02644	-4.605	0.32234	T	.	.	0.056	0.00496	B	.	.	1.340810	0.17474	13.18	0.47766064772525046	0.03932	0.00060	0.00440	N	AEFBI	0.016931	0.00411	N	-1.39773281393494	0.02660	0.1177561	-1.28295177590029	0.04661	0.2203565	1.35654007939644E-4	0.05486	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.81	3.65	0.40985	1.448000	0.34723	5.601000	0.49025	-0.092000	0.16129	0.015000	0.19116	0.999000	0.35428	0.001000	0.02609	0.727:0.1747:0.0983:0.0	5.423	0.15706	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	.	.	.	.	.	.	.	.	0.05	1210.43	43	chr17	7427127	.	G	A	1210.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.077;DP=575;ExcessHet=0;FS=4.532;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.371;SOR=0.69	GT:AD:DP:GQ:PL	0/1:63,52:115:99:1222,0,1647	9	0	1	0
chr17	7933165	7933176	AAGTGTCGTCTG	-	exonic	CNTROB	.	nonframeshift deletion	CNTROB:NM_001037144:exon1:c.86_97del:p.S31_V34del,CNTROB:NM_001330124:exon1:c.86_97del:p.S31_V34del,CNTROB:NM_001353202:exon1:c.86_97del:p.S31_V34del,CNTROB:NM_053051:exon1:c.86_97del:p.S31_V34del,CNTROB:NM_001353203:exon2:c.86_97del:p.S31_V34del,CNTROB:NM_001353206:exon2:c.86_97del:p.S31_V34del,CNTROB:NM_001353207:exon2:c.86_97del:p.S31_V34del,CNTROB:NM_001353208:exon2:c.86_97del:p.S31_V34del,CNTROB:NM_001353209:exon2:c.86_97del:p.S31_V34del	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.766e-05	0	8.637e-05	0	0	0	0	0.0004	3.84e-05	1	26028	rs777422309	3.215e-05	3.215e-05	9.528e-06	5.5e-05	0.0005	2.478e-05	2.22e-05	0.0004	0.0004	0	0	0	0	0	0	0	1.656e-05	0.0005	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.279e-05	3.025e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	318.39	35	chr17	7933164	.	CAAGTGTCGTCTG	C	318.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.38;DP=393;ExcessHet=0;FS=1.145;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=-0.711;SOR=0.899	GT:AD:DP:GQ:PL	0/1:72,13:85:99:330,0,2984	9	0	1	0
chr17	8758289	8758289	C	G	exonic	SPDYE4	.	nonsynonymous SNV	SPDYE4:NM_001128076:exon1:c.G94C:p.V32L	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00207970056405	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	1.29e-05	2	154602	rs753294467	5.736e-06	5.472e-06	4.243e-06	7.273e-06	0.0002	2.47e-06	1.78e-06	2.47e-05	1.558e-05	0	0	0	0	0	0.0002	1.858e-06	0	6.402e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.20532	T	0.364	0.16766	T	0.01	0.15535	B	0.003	0.08700	B	0.093822	0.02481	N	2.194420	1	0.08975	N	1.935	0.51832	L	.	.	.	-1.08	0.28084	N	0.072	0.04547	-1.0506	0.14230	T	0.113	0.40284	T	9	0.05412531	0.05713	T	0.00208	0.03828	T	0.047	0.12962	0.113	0.02240	0.0716867268079	0.06686	0.03652766891392506	0.03599	0.0837041349746	0.09440	0.358336269855	0.19143	T	0.010417	0.09410	T	-0.44538	0.01202	T	-0.677862	0.07115	T	0.0689558833837509	0.08504	T	0.576842	0.20728	T	0.063118204	0.13256	0.06478474	0.13036	0.063118204	0.13256	0.06478474	0.13036	-3.666	0.18818	T	.	.	0.149	0.32945	B	.	.	0.531314	0.09002	5.782	0.41692720382868942	0.03025	0.02174	0.06371	N	AEFDGBI	0.041717	0.06380	N	-1.12712031396996	0.06165	0.2830503	-1.23459977144021	0.05363	0.2553384	0.00152814949545363	0.08613	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.65	-3.15	0.04912	0.140000	0.15877	-1.468000	0.05371	-0.339000	0.05715	0.722000	0.28841	0.000000	0.08366	0.024000	0.12247	0.0:0.4878:0.2192:0.293	4.422	0.10911	840	0.37365	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1330.43	38	chr17	8758289	.	C	G	1330.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.353;DP=453;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.289;SOR=0.645	GT:AD:DP:GQ:PL	0/1:46,57:103:99:1342,0,1198	9	0	1	0
chr17	8797850	8797850	A	-	exonic	MFSD6L	.	frameshift deletion	MFSD6L:NM_152599:exon1:c.1271delT:p.L424Cfs*15	.	428	1061	31	2	0	35	0.0162262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	.	0.0020	0.0005	0.0007	0	0	0.0015	0.0022	0.0078	0.0003074	8	26028	rs772162369	0.0035	0.0035	0.0032	0.0039	0.0146	0.0035	0.0034	0.0121	0.0115	0.0005	0.0010	0.0042	0.0002	0.0002	0.0146	0.0032	0.0036	0.0124	0.0022	0.0022	0.0022	0.0021	0.0133	0.0020	0.0019	0.0107	0.0097	0.0008	0	0.0009	0.0032	0.0002	0	0.0136	0.0029	0.0033	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2621.39	34	chr17	8797849	.	CA	C	2621.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.497;DP=839;ExcessHet=0;FS=2.642;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.022;SOR=0.493	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,71:187:99:0|1:8797849_CA_C:2633,0,4656:8797849	9	0	1	0
chr17	8797853	8797855	GTA	-	exonic	MFSD6L	.	nonframeshift deletion	MFSD6L:NM_152599:exon1:c.1266_1268del:p.T423del	.	428	1060	32	2	0	36	0.0166976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	.	0.0020	0.0005	0.0007	0	0	0.0015	0.0022	0.0078	0.0003074	8	26028	rs773237450	0.0035	0.0035	0.0032	0.0039	0.0146	0.0035	0.0034	0.0121	0.0115	0.0005	0.0010	0.0042	0.0002	0.0002	0.0146	0.0032	0.0036	0.0124	0.0022	0.0022	0.0023	0.0021	0.0133	0.0020	0.0019	0.0107	0.0098	0.0008	0	0.0009	0.0032	0.0002	0	0.0136	0.0029	0.0033	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2605.39	34	chr17	8797852	.	TGTA	T	2605.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.126;DP=839;ExcessHet=0;FS=3.415;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-0.025;SOR=0.49	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,71:192:99:0|1:8797849_CA_C:2617,0,4867:8797849	9	0	1	0
chr17	8797856	8797856	G	C	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.C1265G:p.A422G	.	429	1059	32	2	0	36	0.0167131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0167513740792	.	.	0.0020	0.0005	0.0007	0	0	0.0015	0.0022	0.0078	0.0003074	8	26028	rs771825207	0.0035	0.0035	0.0032	0.0039	0.0146	0.0035	0.0034	0.0121	0.0115	0.0005	0.0010	0.0042	0.0002	0.0002	0.0146	0.0032	0.0036	0.0124	0.0022	0.0022	0.0022	0.0021	0.0133	0.0020	0.0019	0.0107	0.0097	0.0008	0	0.0009	0.0032	0.0002	0	0.0136	0.0029	0.0033	0.0133	0.21	0.19639	T	0.053	0.47336	T	0.001	0.07471	B	0.003	0.08700	B	0.860551	0.07113	N	1.076950	1	0.08975	N	0.805	0.20218	L	-0.81	0.73949	T	-0.17	0.09627	N	0.056	0.02759	-0.9251	0.44844	T	0.189	0.54005	T	10	0.0035704672	0.00064	T	0.016751	0.38152	T	0.086	0.25016	.	.	0.0297737177859	0.01360	0.20310200538486006	0.20227	0.112745788299	0.12728	0.311051726341	0.12065	T	0.001148	0.00651	T	-0.502294	0.00555	T	-0.492782	0.23099	T	0.0126158326934149	0.00211	T	0.30297	0.05734	T	0.040636756	0.05837	0.04083312	0.04502	0.040636756	0.05836	0.04083312	0.04502	-3.505	0.16501	T	.	.	0.082	0.08657	B	.	.	0.662750	0.10309	7.043	0.58173022797346396	0.05933	0.12495	0.17304	N	AEFBCI	0.141001	0.26306	N	-1.18114167878911	0.05286	0.240583	-1.14709652893609	0.06820	0.3295997	0.295297464218477	0.19131	0.614807	0.35715	0	0.577304	0.33150	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	5.05	3.0	0.33773	0.935000	0.28523	1.619000	0.27677	-0.722000	0.03793	0.001000	0.13787	0.003000	0.18671	0.002000	0.04165	0.0989:0.1619:0.4073:0.332	2.418	0.04171	803	0.44167	Major facilitator superfamily associated 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	.	.	.	.	.	.	.	.	0.05	2599.43	34	chr17	8797856	.	G	C	2599.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.731;DP=839;ExcessHet=0;FS=3.395;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.037;SOR=0.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,71:194:99:0|1:8797849_CA_C:2611,0,4951:8797849	9	0	1	0
chr17	8797859	8797861	TTG	-	exonic	MFSD6L	.	nonframeshift deletion	MFSD6L:NM_152599:exon1:c.1260_1262del:p.F420_K421delinsL	.	429	1059	32	2	0	36	0.0167131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	.	0.0020	0.0005	0.0007	0	0	0.0015	0.0022	0.0078	0.0003074	8	26028	rs766497350	0.0035	0.0035	0.0032	0.0039	0.0146	0.0035	0.0034	0.0121	0.0115	0.0005	0.0010	0.0042	0.0002	0.0002	0.0146	0.0032	0.0036	0.0124	0.0022	0.0022	0.0023	0.0021	0.0133	0.0020	0.0019	0.0107	0.0098	0.0008	0	0.0009	0.0032	0.0002	0	0.0137	0.0029	0.0033	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2581.39	34	chr17	8797858	.	TTTG	T	2581.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.962;DP=849;ExcessHet=0;FS=2.578;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=0.769;SOR=0.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,71:200:99:0|1:8797849_CA_C:2593,0,5171:8797849	9	0	1	0
chr17	17158688	17158688	C	T	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon14:c.C2086T:p.P696S,MPRIP:NM_015134:exon14:c.C1732T:p.P578S,MPRIP:NM_201274:exon14:c.C1732T:p.P578S	.	415	1093	13	1	0	15	0.00681508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00445387363551	0.0013	0.000399361	0.0024	0.0006	0.0069	0	0.0002	0.0022	0.0014	0.0026	0.0018823	291	154602	rs190974068	0.0021	0.0021	0.0021	0.0022	0.0036	0.0021	0.0020	0.0030	0.0028	0.0003	0.0034	0.0062	0	0.0001	0.0036	0.0021	0.0022	0.0027	0.0015	0.0015	0.0016	0.0013	0.0033	0.0013	0.0013	0.0021	0.0018	0.0002	0	0.0018	0.0029	0	0.0007	0.0068	0.0022	0.0009	0.0033	0.239	0.19225	T	0.25	0.23707	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.525	0.38595	L	2.25	0.23082	T	-1.2	0.30555	N	0.124	0.16308	-0.9874	0.33249	T	0.041	0.17742	T	9	0.004526466	0.00093	T	0.004454	0.10906	T	0.022	0.04323	.	.	0.19168177325	0.18762	0.35815722957413376	0.35729	0.338675759469	0.35831	.	.	.	0.099242	0.40386	T	-0.560325	0.00253	T	-0.581948	0.14371	T	0.00147646790179908	0.00015	T	0.759324	0.38363	T	0.018688433	0.00391	0.034167647	0.02437	0.018688433	0.00391	0.034167647	0.02437	-5.259	0.39536	T	.	.	0.080	0.12418	B	.;.;.	.;.;.	0.145493	0.05387	1.865	0.4975830727751433	0.04265	0.09112	0.14933	N	AEFDGBI	0.077390	0.15592	N	-0.938851674393687	0.09945	0.4729422	-0.938025306055159	0.11202	0.5692244	0.706675899274028	0.22768	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.45	0.739	0.17473	-0.437000	0.06984	0.037000	0.13814	-0.223000	0.07921	0.000000	0.06391	0.017000	0.20586	0.010000	0.09038	0.0:0.5417:0.1339:0.3244	5.849	0.17932	547	0.72440	.;.;.	.	.	.	.	.	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	0.004061	0.005051	0.001362	0.002941	0.000000	0.000000	0.006289	0.007692	0.05	1056.43	38	chr17	17158688	.	C	T	1056.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.17;DP=424;ExcessHet=0;FS=10.495;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.55;MQRankSum=0.262;QD=11.12;ReadPosRankSum=0.651;SOR=1.692	GT:AD:DP:GQ:PL	0/1:56,39:95:99:1068,0,1423	9	0	1	0
chr17	17224005	17224005	G	A	exonic	FLCN	.	nonsynonymous SNV	FLCN:NM_144606:exon6:c.C535T:p.R179W,FLCN:NM_144997:exon6:c.C535T:p.R179W,FLCN:NM_001353230:exon7:c.C535T:p.R179W,FLCN:NM_001353231:exon7:c.C535T:p.R179W,FLCN:NM_001353229:exon8:c.C589T:p.R197W	Birt-Hogg-Dube syndrome, Autosomal dominant;Colorectal cancer, somatic;Pneumothorax, primary spontaneous, Autosomal dominant;Renal carcinoma, chromophobe, somatic	.	.	.	.	.	.	.	.	.	YES	402038	not_provided|not_specified|Birt-Hogg-Dube_syndrome|Hereditary_cancer-predisposing_syndrome|17p11.2_microduplication_syndrome|Birt-Hogg-Dube_syndrome_1|Familial_spontaneous_pneumothorax|Nonpapillary_renal_cell_carcinoma|Colorectal_cancer	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0800444,MedGen:C0346010,OMIM:PS135150,Orphanet:122|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:100038247,MONDO:MONDO:0012574,MedGen:C2931246,OMIM:610883,Orphanet:1713|MONDO:MONDO:0800445,MedGen:CN375946,OMIM:135150,Orphanet:122|MONDO:MONDO:0008259,MedGen:C1868193,OMIM:173600,Orphanet:2903|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.659	0.327396208473	.	.	5.838e-05	0	0	0	0	7.606e-05	0.0022	0	4.53e-05	7	154602	rs774358971	4.79e-05	4.788e-05	4.63e-05	4.952e-05	6.708e-05	3.861e-05	3.541e-05	4.265e-05	3.837e-05	0	6.708e-05	0	2.519e-05	0	0	5.396e-05	8.279e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.544e-05	2.18e-06	8.2e-07	.	.	0	0	6.544e-05	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.991	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.095	0.58118	M	-2.48	0.89071	D	-4.96	0.83763	D	0.875	0.87590	0.628	0.92271	D	0.774	0.92325	D	10	0.7854332	0.78206	D	0.327396	0.91652	D	0.659	0.87234	0.437	0.48993	0.865525898778	0.86422	0.8514265538539851	0.85104	1.18360250493	0.80079	0.842413127422	0.88463	D	0.959602	0.99471	D	0.285528	0.81784	D	0.364048	0.90855	D	0.597898483276367	0.36317	D	0.920908	0.74555	D	0.89133996	0.90623	0.886935	0.94050	0.89133996	0.90624	0.886935	0.94050	-11.251	0.81017	D	0.6621336169171075	0.73578	0.972	0.91928	P	.;.;.	.;.;.	5.472705	0.91291	32	0.99928195512372375	0.99222	0.95373	0.64467	D	AEFGBI	0.736665	0.68210	D	0.731994064448193	0.81729	7.591051	0.732963977188795	0.84882	8.417202	0.100755776078523	0.16361	0.744818	0.98587	0	0.697927	0.68747	0	0.732433	0.93434	0	0.711	0.71501	0	.	.	5.74	5.74	0.90070	4.184000	0.58121	7.522000	0.59778	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8503:0.1497	14.148	0.64899	794	0.45591	Folliculin, N-terminal|Folliculin/SMCR8, tripartite DENN domain;Folliculin, N-terminal|Folliculin/SMCR8, tripartite DENN domain;Folliculin, N-terminal|Folliculin/SMCR8, tripartite DENN domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1011.43	34	chr17	17224005	.	G	A	1011.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.77;DP=423;ExcessHet=0;FS=3.825;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=1.57;SOR=0.389	GT:AD:DP:GQ:PL	0/1:62,41:103:99:1023,0,1394	9	0	1	0
chr17	18140565	18140565	C	T	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon19:c.C5260T:p.R1754C	Deafness, autosomal recessive 3, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	1433225	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.446	0.0954489642906	0.0002	.	3.352e-05	0.0001	0	0	0	3.046e-05	0	6.058e-05	3.23e-05	5	154602	rs371135457	3.148e-05	3.215e-05	2.86e-05	3.439e-05	0.0002	2.413e-05	2.158e-05	0.0002	0.0001	2.987e-05	0	0	0	0	0	2.068e-05	3.312e-05	0.0002	2.627e-05	2.626e-05	2.568e-05	2.689e-05	0.0002	8.14e-06	5.14e-06	8e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	1.469e-05	0	0.0002	0.001	0.78490	D	0.0	0.92824	D	0.803	0.45133	P	0.23	0.38212	B	.	.	.	.	0.999248	0.46434	D	3.12	0.87914	M	-2.35	0.88066	D	-4.25	0.76094	D	0.346	0.48227	0.110	0.84363	D	0.532	0.82665	D	9	0.487034	0.60769	T	0.095449	0.76430	D	0.446	0.74797	.	.	0.823332747453	0.82166	0.358675075554092	0.35781	.	.	0.630518615246	0.57219	T	0.081703	0.91553	T	-0.154679	0.27581	T	-0.185662	0.55995	T	0.75092226266861	0.43336	D	0.868713	0.57175	D	0.30851963	0.53658	0.400397	0.64577	0.30851963	0.53658	0.400397	0.64577	-11.962	0.84666	D	0.1709646140896716	0.21525	0.101	0.17657	B	.;.;.	.;.;.	5.566197	0.92182	32	0.99722520542912485	0.82125	0.71226	0.34922	D	AEFBCI	0.355744	0.44736	N	0.222504678808314	0.52292	3.404202	0.246340193289653	0.52442	3.418949	0.631339430139158	0.21971	0.525926	0.21836	0	0.547309	0.14657	0	0.547309	0.15389	0	0.584449	0.35598	0	.	.	4.0	2.91	0.32903	2.679000	0.46575	4.724000	0.44520	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.446:0.554:0.0:0.0	9.453	0.37901	207	0.91931	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XV myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XV myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XV myosin, motor 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	.	.	.	.	.	.	.	.	0.05	2425.43	34	chr17	18140565	.	C	T	2425.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.125;DP=492;ExcessHet=0;FS=0.62;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=0.054;SOR=0.787	GT:AD:DP:GQ:PL	0/1:70,89:159:99:2437,0,1766	9	0	1	0
chr17	18317705	18317705	C	A	exonic	SMCR8	.	nonsynonymous SNV	SMCR8:NM_144775:exon1:c.C1916A:p.S639Y	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00572909620491	.	0.000399361	0.0002	0	0	0	0	0	0	0.0015	0.0002005	31	154602	rs570927170	7.114e-05	7.114e-05	4.764e-05	9.488e-05	0.0011	5.98e-05	5.588e-05	0.0010	0.0009	0	0	0	0	0	0	1.799e-06	6.623e-05	0.0011	2.626e-05	2.625e-05	1.285e-05	4.029e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.052	0.39097	T	1.0	0.01155	T	0.148	0.27908	B	0.115	0.31843	B	0.152893	0.17909	N	0.485196	0.999945	0.19238	N	1.67	0.42885	L	0.81	0.48460	T	-1.54	0.37375	N	0.406	0.44666	-1.0251	0.22050	T	0.087	0.33690	T	10	0.009294093	0.00210	T	0.005729	0.14862	T	0.019	0.03383	0.16	0.06396	0.163833314356	0.15978	0.23900861441552437	0.23814	0.115538250481	0.13036	0.354856014252	0.18635	T	0.042949	0.26348	T	-0.476954	0.00771	T	-0.482516	0.24179	T	0.0507888735650122	0.05639	T	.	.	.	0.05348194	0.10128	0.09235696	0.21763	0.05348194	0.10127	0.09235696	0.21762	-5.253	0.39476	T	.	.	0.094	0.14385	B	.	.	1.326183	0.17311	13.09	0.70905897259287276	0.09450	0.57606	0.30421	D	AEFDBHCI	0.101475	0.20381	N	-0.640210869743704	0.17745	0.9157627	-0.605024570401782	0.19364	1.038568	0.999997290858603	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	5.52	2.32	0.27895	0.318000	0.19252	0.213000	0.15984	0.599000	0.40250	0.000000	0.06391	0.348000	0.24457	0.695000	0.33988	0.2552:0.6781:0.0:0.0667	9.548	0.38458	507	0.75469	Folliculin/SMCR8, tripartite DENN 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	.	.	.	.	.	.	.	.	0.05	3222.43	38	chr17	18317705	.	C	A	3222.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.019;DP=979;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.725;SOR=0.717	GT:AD:DP:GQ:PL	0/1:129,124:253:99:3234,0,3280	9	0	1	0
chr17	19415898	19415898	C	T	exonic	RNF112	.	nonsynonymous SNV	RNF112:NM_007148:exon14:c.C1619T:p.T540M	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582145324623	.	0.00139776	0.0007	0	9.048e-05	0.0001	0	0.0001	0.0048	0.0044	0.0005821	90	154602	rs544808951	0.0003	0.0003	0.0002	0.0003	0.0035	0.0002	0.0002	0.0031	0.0030	0	2.239e-05	0	5.038e-05	5.662e-05	0	4.048e-05	0.0005	0.0035	0.0001	0.0001	0.0001	0.0002	0.0035	8.668e-05	7.259e-05	0.0022	0.0018	2.408e-05	0	0	0	0	0	0	2.942e-05	0	0.0035	0.009	0.57480	D	0.133	0.34359	T	.	.	.	.	.	.	.	.	.	.	0.999567	0.47592	D	0	0.06538	N	0.13	0.60973	T	-1.03	0.27052	N	0.373	0.41459	.	.	.	.	.	.	.	0.009559214	0.00215	T	0.582145	0.96259	D	.	.	.	.	0.849206675604	0.84775	0.6764696234528208	0.67585	1.04025779368	0.75768	0.710896730423	0.68723	T	0.185912	0.53903	T	-0.377867	0.03213	T	-0.316394	0.42970	T	.	.	.	0.848415	0.52967	T	0.057322696	0.11392	0.07779316	0.17362	0.057322696	0.11392	0.07779316	0.17362	-4.701	0.33416	T	.	.	0.277	0.51041	B	.	.	4.141151	0.62042	24.4	0.99854220238126434	0.93279	0.42525	0.26897	N	AEFDBI	0.085682	0.17370	N	.	.	.	.	.	.	0.00464647351067735	0.10654	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.49	1.15	0.19876	2.266000	0.42977	4.573000	0.43888	0.599000	0.40250	0.947000	0.32937	1.000000	0.68203	0.999000	0.91618	0.2171:0.4822:0.1833:0.1174	1.959	0.03177	749	0.51929	.	.	.	.	.	.	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	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2363.43	43	chr17	19415898	.	C	T	2363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.55;DP=578;ExcessHet=0;FS=1.127;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.219;SOR=0.599	GT:AD:DP:GQ:PL	0/1:105,96:201:99:2375,0,2380	9	0	1	0
chr17	29253757	29253757	G	A	exonic	CRYBA1	.	nonsynonymous SNV	CRYBA1:NM_005208:exon5:c.G475A:p.G159S	Cataract 10, multiple types, Autosomal dominant	0	1516	6	0	0	6	0.00197498	.	.	.	79364	Cataract_10_multiple_types|not_specified	MONDO:MONDO:0010948,MedGen:C1833229,OMIM:600881,Orphanet:91492|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.596	0.0745515844888	0.0037	0.000599042	0.0022	0.0007	0.0006	0	0.0003	0.0036	0	0.0007	0.0023609	365	154602	rs117757092	0.0037	0.0037	0.0038	0.0036	0.0046	0.0036	0.0036	0.0045	0.0045	0.0005	0.0009	0.0010	2.519e-05	0.0005	0.0003	0.0046	0.0020	0.0008	0.0022	0.0022	0.0026	0.0018	0.0041	0.0020	0.0019	0.0037	0.0036	0.0010	0	0.0004	0.0009	0	9.432e-05	0	0.0041	0.0014	0.0004	0.176	0.22312	T	0.17	0.30436	T	0.996	0.68779	D	0.879	0.62418	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.99	0.53851	M	-0.91	0.75001	T	-2.72	0.57920	D	0.857	0.85343	-0.0865	0.80406	T	0.454	0.78685	T	10	0.0761165	0.11850	T	0.074552	0.72069	D	0.596	0.83965	.	.	0.916343082496	0.91550	0.6397406495571112	0.63909	0.959537596285	0.72949	0.637811839581	0.58253	T	0.52439	0.83426	D	-0.119913	0.33139	T	0.0573117	0.74067	D	0.0269488873355746	0.01537	T	0.927907	0.73422	D	0.42008415	0.62097	0.48358646	0.70103	0.5174616	0.68115	0.4306766	0.66710	-7.543	0.57912	D	.	.	0.279	0.51218	B	.	.	5.030779	0.83670	28.1	0.99852869008461642	0.93191	0.96045	0.67284	D	AEFDGBCI	0.907113	0.86073	D	0.745598416406022	0.82618	7.807232	0.731303318844044	0.84754	8.381308	0.999999999999799	0.74766	0.475973	0.10046	0	0.601575	0.49859	0	0.536957	0.11973	0	0.645665	0.59343	0	.	.	5.43	5.43	0.79006	9.540000	0.97163	11.814000	0.97026	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:0.0:1.0:0.0	18.810	0.92019	323	0.86843	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	475.43	36	chr17	29253757	.	G	A	475.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.99;DP=399;ExcessHet=0;FS=2.165;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=-0.973;SOR=1.121	GT:AD:DP:GQ:PL	0/1:45,23:68:99:487,0,971	9	0	1	0
chr17	35265106	35265106	C	T	exonic	SLFN5	.	nonsynonymous SNV	SLFN5:NM_144975:exon5:c.C1894T:p.R632W	.	431	1085	5	1	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.560	.	7.7e-05	0.0103834	0.0047	0.0005	8.648e-05	0.0001	0	1.51e-05	0.0034	0.0353	0.0041203	637	154602	rs377005010	0.0019	0.0019	0.0011	0.0026	0.0293	0.0018	0.0018	0.0284	0.0280	0.0002	0	0	7.558e-05	0	0.0009	4.138e-05	0.0024	0.0293	0.0011	0.0011	0.0005	0.0018	0.0332	0.0010	0.0009	0.0290	0.0274	0.0002	0	0	0	0	0	0	4.41e-05	0.0005	0.0332	0.025	0.47320	D	0.0	0.92824	D	0.607	0.39488	P	0.118	0.32088	B	0.003538	0.34820	N	0.000000	0.803088	0.81001	D	2.955	0.85029	M	-1.96	0.85091	D	-6.35	0.90976	D	0.579	0.60071	-0.2490	0.76387	T	0.454	0.78703	T	10	0.0072906315	0.00166	T	.	.	.	0.560	0.81946	.	.	0.793167659764	0.79124	0.5150728792062971	0.51430	0.0891160737767	0.10071	0.43927308917	0.30477	T	0.069081	0.33621	T	-0.170347	0.25182	T	0.00621658	0.70738	D	0.135561841435139	0.15886	T	0.958804	0.84482	D	0.17199844	0.37865	0.21237683	0.45704	0.17199844	0.37865	0.21237683	0.45703	-8.686	0.65654	D	.	.	0.268	0.50232	B	.	.	3.901650	0.56841	23.8	0.99562287055590459	0.71831	0.55984	0.30002	D	AEFBI	0.302629	0.41082	N	-0.120684219932541	0.36492	2.110103	-0.166264362806132	0.32787	1.868807	0.013306487183894	0.12446	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.27	2.29	0.27658	0.280000	0.18550	0.647000	0.20375	0.549000	0.26987	0.296000	0.25288	0.000000	0.08366	0.955000	0.50612	0.0:0.862:0.0:0.138	6.601	0.21897	870	0.31527	Domain of unknown function DUF2075	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.015152	0.1	2156.14	79	chr17	35265106	.	C	T	2156.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.94;DP=684;ExcessHet=0.2348;FS=2.68;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=0.123;SOR=0.935	GT:AD:DP:GQ:PL	0/1:75,43:118:99:1140,0,1839	8	0	2	0
chr17	36167617	36167617	C	G	exonic	TBC1D3B;TBC1D3D;TBC1D3G;TBC1D3H;TBC1D3I;TBC1D3L	.	nonsynonymous SNV	TBC1D3L:NM_001369500:exon12:c.G1008C:p.E336D,TBC1D3B:NM_001001417:exon13:c.G1008C:p.E336D,TBC1D3H:NM_001123392:exon13:c.G1008C:p.E336D,TBC1D3L:NM_001291459:exon13:c.G1008C:p.E336D,TBC1D3G:NM_001291462:exon13:c.G1008C:p.E336D,TBC1D3I:NM_001291463:exon13:c.G1008C:p.E336D,TBC1D3D:NM_001291465:exon13:c.G1008C:p.E336D	.	809	433	233	42	5	322	0.267963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0173503304639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381485068	0.0085	0.0082	0.0068	0.0100	0.0329	0.0083	0.0082	0.0315	0.0310	0.0002	0.0007	0.0018	0.0219	0.0117	0.0014	0.0041	0.0076	0.0329	0.0056	0.0056	0.0049	0.0064	0.0462	0.0053	0.0051	0.0399	0.0376	0.0002	0	0.0008	0.0033	0.0318	0.0138	0.0048	0.0049	0.0038	0.0462	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	N	0.000000	0.999999	0.08975	N	-2.35	0.00085	N	.	.	.	.	.	.	0.116	0.10483	-1.0270	0.21429	T	0.004	0.01295	T	8	0.0045027435	0.00093	T	0.01735	0.39013	T	.	.	0.513	0.61153	0.043077524339	0.03247	0.0392430690314691	0.03870	.	.	0.75837790966	0.75688	T	0.006884	0.06306	T	-0.338627	0.05484	T	-0.72419	0.04596	T	0.185262024402618	0.19561	T	0.509849	0.16238	T	0.3781015	0.59178	0.1925139	0.42769	0.3781015	0.59179	0.1925139	0.42768	1.368	0.00093	T	.	.	0.075	0.05491	B	.	.	-0.871200	0.00975	0.039	0.063579571095097626	0.00023	0.01005	0.03799	N	AEFI	0.018925	0.00613	N	-2.03155573819268	0.00181	0.007745146	-1.97578152611363	0.00344	0.01520704	1.11788979939101E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	.	.	.	-0.163000	0.09986	-12.892000	0.00493	-0.878000	0.02484	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	882	0.29131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	432.2	6	chr17	36167617	.	C	G	432.2	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.444;DP=62;ExcessHet=3.8694;FS=0;InbreedingCoeff=-0.4056;MLEAC=1;MLEAF=0.071;MQ=24.85;MQRankSum=0;QD=11.08;ReadPosRankSum=0.545;SOR=0.743	GT:AD:DP:GQ:PL	0/1:1,4:5:10:92,0,10	6	0	1	3
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	.	.	.	.	.	.	.	.	0.5	5690.04	86	chr17	37257713	.	C	T	5690.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.669;DP=834;ExcessHet=22.563;FS=449.684;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=0.076;SOR=12.223	GT:AD:DP:GQ:PL	0/1:46,53:99:99:603,0,490	0	0	10	0
chr17	37701043	37701043	C	T	exonic	HNF1B	.	nonsynonymous SNV	HNF1B:NM_000458:exon7:c.G1474A:p.G492S,HNF1B:NM_001165923:exon7:c.G1396A:p.G466S	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Renal cysts and diabetes syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	344277	Nonpapillary_renal_cell_carcinoma|Renal_cysts_and_diabetes_syndrome|Type_2_diabetes_mellitus|not_provided	MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MONDO:MONDO:0007669,MedGen:C0431693,OMIM:137920,Orphanet:93111|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.426	.	0.0003	0.00159744	0.0009	0	0	0	0.125	0.0008	0	0	0.0007956	123	154602	rs187556368	0.0010	0.0010	0.0010	0.0010	0.0001	0.0009	0.0009	0.0001	9.51e-05	0	0	0	0	0.0245	0	0.0001	0.0009	0	0.0020	0.0020	0.0013	0.0027	0.0007	0.0018	0.0017	0.0005	0.0005	0	0	0	0	0	0.0239	0	0.0007	0.0009	0	.	.	.	0.122	0.41239	T	0.014	0.16867	B	0.029	0.21540	B	0.001407	0.39109	N	0.203938	0.934406	0.81001	D	0.55	0.14455	N	.	.	.	.	.	.	0.342	0.39457	0.713	0.93338	D	0.859	0.95295	D	10	0.006783843	0.00154	T	.	.	.	.	.	.	.	0.729183891889	0.72678	0.33917793479266456	0.33830	.	.	0.459092408419	0.33186	T	0.532887	0.83867	D	-0.37163	0.03512	T	-0.311213	0.43527	T	0.0854101041102221	0.10664	T	.	.	.	0.10175398	0.24039	0.19563799	0.43252	0.107579514	0.25437	0.22053106	0.46830	-2.666	0.07022	T	.	.	0.065	0.05103	B	.;.;.	.;.;.	2.549916	0.32999	19.21	0.99047298637044889	0.51162	0.83455	0.42571	D	AEFDGBIJ	0.363448	0.45234	N	-0.290864577129937	0.29500	1.636493	-0.0970043909384359	0.35514	2.055537	0.999994985098757	0.74766	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.67	4.7	0.58776	1.666000	0.37076	1.409000	0.26264	0.599000	0.40250	0.913000	0.31760	0.880000	0.27694	0.982000	0.59238	0.0:0.9185:0.0:0.0815	12.331	0.54362	0	0.99858	Hepatocyte nuclear factor 1, beta isoform, C-terminal;Hepatocyte nuclear factor 1, beta isoform, C-terminal;Hepatocyte nuclear factor 1, beta isoform, C-terminal	.	.	.	.	rs187556368	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	.	.	.	.	.	.	.	.	0.05	2327.43	35	chr17	37701043	.	C	T	2327.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.94;DP=480;ExcessHet=0;FS=1.265;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=1.29;SOR=0.579	GT:AD:DP:GQ:PL	0/1:71,83:154:99:2339,0,1858	9	0	1	0
chr17	42162261	42162261	C	T	exonic	KCNH4	.	nonsynonymous SNV	KCNH4:NM_012285:exon15:c.G2645A:p.R882Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331	0.283848843039	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169628526	8.894e-06	9.577e-06	6.807e-06	1.1e-05	4.474e-05	4.96e-06	3.82e-06	7.42e-06	2.78e-06	0	4.474e-05	0	2.521e-05	0	0	8.094e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.25355	T	0.213	0.26467	T	0.009	0.15093	B	0.002	0.06944	B	0.156807	0.17788	N	0.404399	0.592839	0.31005	N	0.895	0.22405	L	-5.07	0.98648	D	-0.59	0.17624	N	0.215	0.24010	0.693	0.93092	D	0.848	0.94930	D	10	0.17253578	0.32032	T	0.283849	0.90327	D	0.331	0.65325	0.345	0.33950	0.559037810454	0.55565	0.19489781520610294	0.19407	0.576773492604	0.53626	0.343684196472	0.16988	T	0.257311	0.62833	T	-0.0507128	0.44338	T	-0.134775	0.60568	T	0.640536069869995	0.38060	D	0.791921	0.43319	T	0.046603937	0.07827	0.061717436	0.11961	0.046603937	0.07827	0.061717436	0.11961	-4.196	0.26694	T	.	.	0.070	0.03849	B	.;.	.;.	2.783161	0.36562	20.3	0.98844376961340363	0.47186	0.68300	0.33750	D	AEFGBI	0.216582	0.34180	N	-0.555798765588231	0.20303	1.069256	-0.417332365604998	0.24489	1.341245	0.27523172747297	0.18933	0.533608	0.22052	0	0.588066	0.40923	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	4.91	2.93	0.33092	1.503000	0.35323	1.248000	0.25151	-0.202000	0.08738	0.990000	0.36992	0.623000	0.25826	0.864000	0.41028	0.0:0.8243:0.0:0.1757	8.913	0.34725	313	0.87327	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1630.43	35	chr17	42162261	.	C	T	1630.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.314;DP=420;ExcessHet=0;FS=2.826;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.53;ReadPosRankSum=1.16;SOR=0.496	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,43:88:99:0|1:42162260_C_T:1642,0,1751:42162260	9	0	1	0
chr17	42796489	42796489	C	T	exonic	WNK4	.	stopgain	WNK4:NM_001321299:exon17:c.C2632T:p.R878X,WNK4:NM_032387:exon18:c.C3640T:p.R1214X	Pseudohypoaldosteronism, type IIB, Autosomal dominant	2	1519	1	0	0	1	0.000329056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433750186	1.437e-05	1.436e-05	1.225e-05	1.65e-05	2.987e-05	9.23e-06	7.84e-06	1.093e-05	8.81e-06	2.987e-05	0	3.826e-05	0	0	0	1.709e-05	0	0	1.314e-05	1.313e-05	0	2.691e-05	6.541e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	6.541e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.004745	0.33426	N	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.843	0.83885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504217	0.94413	D	0.486496	0.94335	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.864463	0.98130	38	0.99468818582149265	0.66207	0.83430	0.42548	D	AEFBCI	0.282118	0.39554	N	0.647080412799092	0.76180	6.439103	0.4971007664179	0.67797	5.132448	0.999820459456203	0.43622	0.554377	0.28877	0	0.54472	0.11627	0	0.602189	0.34648	0	0.528226	0.09195	0	.	.	5.51	3.29	0.36801	0.829000	0.27102	2.740000	0.34455	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.3199:0.68:0.0:0.0	15.567	0.76040	240	0.90628	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	664.43	32	chr17	42796489	.	C	T	664.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.169;DP=320;ExcessHet=0;FS=1.217;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=-0.323;SOR=0.425	GT:AD:DP:GQ:PL	0/1:17,26:43:99:676,0,475	9	0	1	0
chr17	42845444	42845444	G	A	exonic	AOC2	.	nonsynonymous SNV	AOC2:NM_001158:exon1:c.G818A:p.R273Q,AOC2:NM_009590:exon1:c.G818A:p.R273Q	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0071	0.00279553	0.0074	0.0028	0.0059	0.0001	0.0047	0.0110	0.0088	0.0017	0.0073479	1136	154602	rs35508987	0.0090	0.0090	0.0093	0.0086	0.0120	0.0088	0.0088	0.0103	0.0102	0.0031	0.0051	0.0047	7.557e-05	0.0048	0.0120	0.0104	0.0084	0.0021	0.0056	0.0056	0.0057	0.0055	0.0087	0.0053	0.0052	0.0082	0.0079	0.0027	0.0154	0.0034	0.0038	0	0.0039	0.0103	0.0087	0.0033	0.0029	0.626	0.05214	T	0.613	0.07617	T	0.007	0.16265	B	0.002	0.11217	B	0.992717	0.07913	N	1.003210	1	0.08975	N	0.145	0.08828	N	2.41	0.15492	T	-1.12	0.28906	N	0.132	0.18512	-0.9461	0.41632	T	0.014	0.05465	T	10	0.0034820437	0.00062	T	.	.	.	0.030	0.07022	.	.	0.27479166964	0.27093	0.26446185152164287	0.26359	0.0274467866167	0.02809	0.325650811195	0.14276	T	0.129138	0.45724	T	-0.675993	0.00051	T	-0.735832	0.04068	T	0.0154673346022734	0.00348	T	0.20068	0.04486	T	0.03271112	0.03348	0.03697657	0.03254	0.03271112	0.03348	0.03697657	0.03253	-3.324	0.14048	T	.	.	0.060	0.00964	B	.;.	.;.	0.328456	0.07025	3.586	0.84758088511649399	0.15480	0.07583	0.13594	N	AEFDBHCI	0.033313	0.03926	N	-0.96308250136129	0.09401	0.4447697	-0.81931881968508	0.14028	0.7308428	0.643147226268311	0.22072	0.460665	0.09802	0	0.379588	0.06130	0	0.575934	0.27490	0	0.508809	0.08732	0	.	.	5.75	1.03	0.19161	-0.002000	0.12858	1.902000	0.29588	-1.577000	0.00925	0.000000	0.06391	0.973000	0.29867	0.000000	0.00833	0.3468:0.0:0.5339:0.1193	6.448	0.21087	262	0.89730	.;.	.	.	.	.	rs35508987	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	0.011581	0.020202	0.014946	0.026316	0.000000	0.017241	0.000000	0.003788	0.05	1857.43	38	chr17	42845444	.	G	A	1857.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=505;ExcessHet=0;FS=2.655;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.568;SOR=0.494	GT:AD:DP:GQ:PL	0/1:103,76:179:99:1869,0,2566	9	0	1	0
chr17	43209576	43209576	C	T	exonic	NBR1	.	nonsynonymous SNV	NBR1:NM_001291571:exon21:c.C2747T:p.S916L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00247799293091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.892e-06	2.736e-06	0	5.862e-06	5.049e-05	6.8e-07	4.6e-07	1.678e-05	9.94e-06	0	0	0	0	0	0	0	0	5.049e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	.	.	.	0.231	0.25989	-1.0011	0.29602	T	0.077	0.30828	T	7	0.083803385	0.13980	T	0.002478	0.04925	T	.	.	0.34	0.33141	0.177238962908	0.17366	.	.	.	.	.	.	.	.	.	.	-0.208605	0.19577	T	-0.537423	0.18551	T	0.0225476848085301	0.00970	T	0.474053	0.14146	T	.	.	.	.	.	.	.	.	-2.953	0.09684	T	.	.	0.104	0.18705	B	.	.	0.197311	0.05827	2.267	0.68196843098406135	0.08585	0.03259	0.08291	N	AEFBI	0.040444	0.06017	N	-0.901074322236357	0.10816	0.5188141	-0.995857017767948	0.09878	0.4940473	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	883.7	49	chr17	43209576	.	C	T	883.7	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.175;DP=394;ExcessHet=3.8694;FS=226.211;InbreedingCoeff=-0.444;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.48;ReadPosRankSum=0.783;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,19:62:99:0|1:43209572_C_T:326,0,1432:43209572	1	0	5	4
chr17	44736833	44736833	A	C	exonic	DBF4B	.	nonsynonymous SNV	DBF4B:NM_025104:exon8:c.A634C:p.T212P,DBF4B:NM_145663:exon8:c.A634C:p.T212P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00413421720564	.	.	1.647e-05	0	0	0	0.0002	1.498e-05	0	0	1.29e-05	2	154602	rs765238899	2.394e-05	2.394e-05	2.178e-05	2.613e-05	8.993e-06	1.739e-05	1.539e-05	4.55e-06	3.32e-06	0	0	0.0003	0	0.0002	0	8.993e-06	4.968e-05	0	4.6e-05	4.596e-05	1.285e-05	8.07e-05	2.94e-05	2.109e-05	1.527e-05	4.88e-06	1.83e-06	0	0	0	0	0	0.0005	0	2.94e-05	0	0	0.206	0.30943	T	0.226	0.39954	T	0.983	0.67487	D	0.804	0.60866	P	0.069325	0.21612	N	0.423083	0.998175	0.58761	D	1.525	0.38595	L	2.67	0.12473	T	-1.15	0.29525	N	0.269	0.30461	-1.1138	0.02763	T	0.054	0.22693	T	10	0.085032165	0.14314	T	0.004134	0.09900	T	0.059	0.16972	0.242	0.17524	0.275641507738	0.27180	0.2929046838125043	0.29203	0.224819397951	0.25018	0.36115655303	0.19554	T	0.004151	0.03562	T	-0.258263	0.13103	T	-0.545108	0.17798	T	0.0869246795773506	0.10849	T	0.516848	0.16688	T	0.12203316	0.28685	0.09893516	0.23603	0.12203316	0.28685	0.09893516	0.23602	-2.758	0.08369	T	.	.	0.070	0.12750	B	.;.	.;.	1.511240	0.19414	14.25	0.52029826890848718	0.04672	0.09195	0.15000	N	AEFBI	0.091982	0.18626	N	-0.318494794683245	0.28447	1.569045	-0.467086684409934	0.23066	1.256011	0.00193053450497162	0.09011	0.719381	0.83141	0	0.636889	0.57051	0	0.723133	0.82415	0	0.683762	0.67416	0	.	.	4.94	1.49	0.21966	0.354000	0.19885	1.230000	0.25036	-0.050000	0.17177	0.269000	0.25036	0.103000	0.22699	0.592000	0.31189	0.7097:0.0:0.2903:0.0	6.652	0.22159	485	0.77085	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1300.43	34	chr17	44736833	.	A	C	1300.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.86;DP=466;ExcessHet=0;FS=1.306;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=0.202;SOR=0.572	GT:AD:DP:GQ:PL	0/1:91,60:151:99:1312,0,2313	9	0	1	0
chr17	46872579	46872579	A	G	exonic	WNT9B	.	nonsynonymous SNV	WNT9B:NM_001320458:exon2:c.A140G:p.Q47R,WNT9B:NM_003396:exon2:c.A140G:p.Q47R	.	420	1079	20	3	0	26	0.0119048	.	.	.	1630578	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.128	.	0.0044	0.00339457	0.0075	0.0009	0.0017	0	0.0259	0.0068	0.0136	0.0167	0.0064035	990	154602	rs118185468	0.0065	0.0065	0.0063	0.0067	0.0128	0.0064	0.0063	0.0122	0.0119	0.0005	0.0018	0.0017	2.538e-05	0.0230	0.0079	0.0059	0.0059	0.0128	0.0054	0.0054	0.0048	0.0061	0.0128	0.0051	0.0050	0.0103	0.0093	0.0010	0	0.0011	0.0035	0	0.0231	0	0.0065	0.0038	0.0128	0.134	0.29688	T	0.476	0.30143	T	0.072	0.23997	B	0.023	0.19966	B	0.082512	0.20804	N	0.507715	0.858057	0.28398	N	1.895	0.50365	L	-1.39	0.80387	T	-0.69	0.19720	N	0.141	0.14763	-0.7710	0.56803	T	0.247	0.61635	T	10	0.005423963	0.00119	T	.	.	.	0.128	0.35103	.	.	0.900307032389	0.89931	0.5040463843694573	0.50326	0.299722776496	0.32340	0.550557017326	0.45935	T	0.268256	0.64036	T	-0.399512	0.02332	T	-0.334971	0.40912	T	0.00942075269797112	0.00121	T	.	.	.	0.06629579	0.14250	0.096777566	0.23008	0.06629579	0.14250	0.096777566	0.23008	-3.213	0.12640	T	.	.	0.065	0.01909	B	.;.;.	.;.;.	1.602473	0.20483	14.77	0.91943365196778426	0.21270	0.78732	0.38889	D	AEFDBI	0.143800	0.26660	N	-0.470793134273499	0.23042	1.234558	-0.423063799552568	0.24321	1.331227	0.581956077750406	0.21578	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.48	4.48	0.53973	1.500000	0.35290	5.610000	0.49052	0.751000	0.87719	0.054000	0.21560	1.000000	0.68203	0.025000	0.12405	0.8506:0.1494:0.0:0.0	11.516	0.49771	444	0.79803	.;.;.	.	.	.	.	.	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	0.004040	0.000000	0.002717	0.000000	0.000000	0.000000	0.003067	0.026718	0.05	1049.43	35	chr17	46872579	.	A	G	1049.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.432;DP=425;ExcessHet=0;FS=0.724;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-1.227;SOR=0.809	GT:AD:DP:GQ:PL	0/1:58,50:108:99:1061,0,1302	9	0	1	0
chr17	57979246	57979246	C	-	exonic	VEZF1	.	frameshift deletion	VEZF1:NM_007146:exon5:c.1044delG:p.Q348Hfs*9,VEZF1:NM_001330393:exon6:c.1017delG:p.Q339Hfs*9	.	384	1088	13	2	35	52	0.00775194	.	.	.	3199798	VEZF1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0077	0.0005	0.0001	0.0004	0.0006	0.0013	0.0089	3.88e-05	6	154602	rs746343850	0.0038	0.0039	0.0032	0.0045	0.0278	0.0037	0.0037	0.0269	0.0265	0.0219	0.0022	0.0002	0.0001	0.0003	0.0100	0.0018	0.0055	0.0278	0.0075	0.0078	0.0070	0.0080	0.0288	0.0071	0.0070	0.0248	0.0233	0.0204	0	0.0049	0	0	9.812e-05	0.0140	0.0021	0.0059	0.0288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1878.39	100	chr17	57979245	.	GC	G	1878.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.931;DP=656;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=0.782;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,52:122:99:0|1:57979245_GC_G:1890,0,2553:57979245	9	0	1	0
chr17	57979248	57979249	GC	-	exonic	VEZF1	.	frameshift deletion	VEZF1:NM_007146:exon5:c.1041_1042del:p.Q348Afs*27,VEZF1:NM_001330393:exon6:c.1014_1015del:p.Q339Afs*27	.	383	1104	1	0	34	35	0.000452694	.	.	.	3199865	VEZF1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0064	0.0004	0.0001	0	0.0005	0.0012	0.0073	0.0002305	6	26028	rs775689252	0.0034	0.0036	0.0029	0.0040	0.0251	0.0033	0.0033	0.0242	0.0238	0.0173	0.0020	0.0002	0.0001	0.0002	0.0094	0.0016	0.0049	0.0251	0.0073	0.0076	0.0068	0.0079	0.0282	0.0070	0.0068	0.0243	0.0228	0.0199	0	0.0047	0	0	9.726e-05	0.0140	0.0021	0.0060	0.0282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1834.04	37	chr17	57979247	.	TGC	T	1834.04	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.824;DP=530;ExcessHet=0;FS=1.642;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.34;ReadPosRankSum=0.794;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,44:101:99:0|1:57979245_GC_G:1887,0,2587:57979245	9	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	.	.	.	.	.	.	.	.	0.375	260.82	69	chr17	61968034	.	C	G	260.82	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-1.413;DP=565;ExcessHet=4.5998;FS=188.81;InbreedingCoeff=-0.5387;MLEAC=7;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=1.49;SOR=10.074	GT:AD:DP:GQ:PL	0/1:29,14:43:19:19,0,355	2	0	6	2
chr17	63941118	63941118	G	C	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon24:c.C5164G:p.L1722V	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.680	0.163519316894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.046	0.49120	D	0.996	0.68779	D	0.857	0.61067	P	0.000119	0.50451	D	0.135640	0.999964	0.52935	D	2.73	0.79844	M	-4.06	0.96529	D	-1.92	0.44657	N	0.155	0.16028	1.031	0.97729	D	0.919	0.97305	D	10	0.48320004	0.60554	T	0.163519	0.84284	D	0.680	0.88252	0.503	0.59615	0.888124206545	0.88701	0.6963183111820277	0.69572	0.290016544937	0.31410	0.705196857452	0.67897	T	0.522262	0.83315	D	0.127982	0.67164	D	-0.0539395	0.66752	D	0.958825409412384	0.65372	D	0.894111	0.63286	D	0.60872424	0.73160	0.39797387	0.64398	0.60872424	0.73161	0.39797387	0.64398	-10.23	0.75277	D	0.4184592462782333	0.50760	0.488	0.64011	A	.	.	3.634387	0.51500	23.1	0.99814602528221963	0.89797	0.94137	0.60224	D	AEFDBI	0.707789	0.66241	D	0.547185778434073	0.69911	5.424745	0.475336708998014	0.66359	4.941919	0.999999979227993	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.04	4.04	0.46262	1.790000	0.38366	8.706000	0.78122	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.944000	0.48669	0.0:0.0:1.0:0.0	15.741	0.77655	834	0.38640	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1956.43	161	chr17	63941118	.	G	C	1956.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.223;DP=1521;ExcessHet=0;FS=1.767;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-0.259;SOR=0.828	GT:AD:DP:GQ:PL	0/1:113,84:197:99:1968,0,3106	9	0	1	0
chr17	65902253	65902253	G	A	exonic	CEP112	.	stopgain	CEP112:NM_001302891:exon18:c.C1936T:p.R646X,CEP112:NM_001353128:exon18:c.C1936T:p.R646X,CEP112:NM_001199165:exon20:c.C2062T:p.R688X,CEP112:NM_001353127:exon20:c.C2062T:p.R688X,CEP112:NM_001353129:exon20:c.C2065T:p.R689X	.	428	1092	1	1	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0001	0	8.681e-05	0	0	3.001e-05	0	0.0007	9.7e-05	15	154602	rs147238839	9.099e-05	9.098e-05	4.356e-05	0.0001	0.0010	7.824e-05	7.306e-05	0.0009	0.0008	2.987e-05	6.709e-05	0	0.0001	0	0	2.428e-05	0.0001	0.0010	6.583e-05	6.57e-05	2.573e-05	0.0001	0.0010	3.522e-05	2.62e-05	0.0004	0.0003	2.418e-05	0	0	0	0	0.0003	0	1.471e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.002130	0.37183	N	0.228496	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.172	0.18376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345844	0.86225	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	10.027894	0.99518	44	0.99745999079182024	0.83852	0.95627	0.65481	D	AEFBI	0.116351	0.22838	N	0.93812664074982	0.93498	12.07966	0.836161004257832	0.92180	11.282	0.841558383587104	0.24876	0.638212	0.43195	0	0.588066	0.40923	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.84	5.84	0.93373	6.466000	0.73458	11.702000	0.94515	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.857:0.143	14.934	0.70586	227	0.91186	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1381.43	34	chr17	65902253	.	G	A	1381.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.63;DP=435;ExcessHet=0;FS=6.801;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=1.5;SOR=0.338	GT:AD:DP:GQ:PL	0/1:65,58:123:99:1393,0,1353	9	0	1	0
chr17	68433508	68433508	C	T	exonic	WIPI1	.	nonsynonymous SNV	WIPI1:NM_001320772:exon7:c.G514A:p.E172K,WIPI1:NM_017983:exon8:c.G760A:p.E254K	.	435	1083	4	0	0	4	0.00184332	.	.	.	2384855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.382	0.0998048311896	0.0002	.	0.0002	9.61e-05	0	0	0	0.0002	0.0011	0.0002	0.0001358	21	154602	rs375682247	0.0001	0.0001	0.0001	9.488e-05	0.0038	9.092e-05	8.598e-05	0.0026	0.0022	2.987e-05	2.236e-05	0	0	0	0.0038	9.982e-05	0.0002	9.275e-05	0.0001	0.0001	0.0002	0.0001	0.0002	9.75e-05	8.263e-05	0.0001	7.896e-05	9.64e-05	0	6.548e-05	0	0	0	0.0102	0.0002	0.0005	0.0002	0.001	0.78490	D	0.007	0.69154	D	0.999	0.77913	D	0.866	0.61580	P	0.000002	0.62929	D	0.098479	1	0.81001	D	2.045	0.56016	M	0.81	0.69158	T	-3.75	0.71157	D	0.852	0.84817	-0.6884	0.60983	T	0.259	0.62955	T	10	0.564413	0.64969	D	0.099805	0.77169	D	0.382	0.69946	.	.	0.63145417221	0.62843	0.7856730729427183	0.78518	0.835685596605	0.67809	0.832173705101	0.86895	D	0.12585	0.56553	T	0.152161	0.69471	D	0.260228	0.86101	D	0.361298680305481	0.27460	T	0.922708	0.76517	D	0.7075556	0.78473	0.60327226	0.76944	0.7075556	0.78474	0.60327226	0.76945	-11.182	0.80647	D	.	.	0.906	0.83140	P	.;.;.	.;.;.	5.267578	0.88442	29.6	0.99936320603779605	0.99621	0.98405	0.82440	D	AEFBI	0.923596	0.90031	D	0.695854033433705	0.79359	7.061397	0.673726576736109	0.80389	7.287874	0.999999999999537	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.08	5.08	0.68373	7.415000	0.79344	7.472000	0.59162	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:1.0:0.0:0.0	18.724	0.91669	932	0.16191	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.006793	0.008772	0.000000	0.000000	0.000000	0.000000	0.05	1328.43	35	chr17	68433508	.	C	T	1328.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.784;DP=433;ExcessHet=0;FS=0.692;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-1.694;SOR=0.608	GT:AD:DP:GQ:PL	0/1:60,55:115:99:1340,0,1373	9	0	1	0
chr17	74854900	74854900	G	A	exonic	GRIN2C	.	nonsynonymous SNV	GRIN2C:NM_000835:exon2:c.C193T:p.L65F,GRIN2C:NM_001278553:exon2:c.C193T:p.L65F	.	430	1048	39	5	0	49	0.0228438	.	.	.	729756	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.029	0.0106221511673	0.0049	0.00259585	0.0050	0.0008	0.0026	0	0.0032	0.0068	0.0035	0.0051	0.0048512	750	154602	rs78349823	0.0063	0.0063	0.0061	0.0065	0.0197	0.0062	0.0061	0.0167	0.0156	0.0010	0.0029	0.0036	0	0.0038	0.0197	0.0070	0.0059	0.0055	0.0045	0.0045	0.0049	0.0040	0.0069	0.0042	0.0041	0.0064	0.0061	0.0012	0.0022	0.0051	0.0055	0	0.0030	0.0272	0.0069	0.0076	0.0027	0.008	0.58626	D	0.017	0.60337	D	0.93	0.51791	P	0.573	0.49966	P	0.020133	0.27106	N	0.344090	0.837722	0.28673	N	1.79	0.46772	L	2.77	0.11407	T	-1.76	0.41618	N	0.14	0.14905	-1.1322	0.01680	T	0.027	0.11397	T	10	0.009157836	0.00207	T	0.010622	0.27366	T	0.029	0.06676	.	.	0.726739929651	0.72432	0.49833384254028434	0.49754	1.19053074043	0.80270	0.541441082954	0.44649	T	0.235419	0.60267	T	-0.598941	0.00148	T	-0.629108	0.10482	T	0.0149162963541447	0.00317	T	0.789321	0.42944	T	0.114562035	0.27043	0.15262114	0.35901	0.114562035	0.27043	0.15262114	0.35900	-8.72	0.65877	D	.	.	0.100	0.28086	B	.;.	.;.	4.403692	0.68060	25.2	0.97318716847729081	0.33365	0.91189	0.53035	D	AEFBI	0.310797	0.41671	N	0.315904096523676	0.56964	3.862214	0.307413121967798	0.55973	3.760336	0.100368974678565	0.16352	0.580535	0.33130	0	0.626922	0.53725	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	4.4	3.36	0.37579	2.755000	0.47219	5.486000	0.48735	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.903000	0.43903	0.0:0.3511:0.3869:0.262	6.989	0.23927	900	0.24599	.;.	.	.	.	.	.	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	0.012097	0.005051	0.009511	0.023392	0.000000	0.025862	0.012195	0.011364	0.1	1757.14	33	chr17	74854900	.	G	A	1757.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.489;DP=417;ExcessHet=0.2348;FS=2.996;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=1.13;SOR=0.782	GT:AD:DP:GQ:PL	0/1:38,29:67:99:785,0,1051	8	0	2	0
chr17	78799723	78799723	G	C	exonic	USP36	.	nonsynonymous SNV	USP36:NM_001385177:exon17:c.C2573G:p.S858C,USP36:NM_001385178:exon17:c.C2573G:p.S858C,USP36:NM_001385180:exon17:c.C2411G:p.S804C,USP36:NM_001321291:exon18:c.C3068G:p.S1023C,USP36:NM_001385169:exon18:c.C3071G:p.S1024C,USP36:NM_001385170:exon18:c.C3068G:p.S1023C,USP36:NM_001385171:exon18:c.C3068G:p.S1023C,USP36:NM_001385173:exon18:c.C3068G:p.S1023C,USP36:NM_001385174:exon18:c.C3068G:p.S1023C,USP36:NM_001385175:exon18:c.C3068G:p.S1023C,USP36:NM_001385176:exon18:c.C3068G:p.S1023C,USP36:NM_001385179:exon18:c.C2438G:p.S813C,USP36:NM_001385172:exon19:c.C3068G:p.S1023C	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0008	0.0255591	0.0106	0.0006	0.0041	0.1160	0.0088	0.0017	0.0132	0.0026	0.0099158	1533	154602	rs75462245	0.0046	0.0047	0.0048	0.0044	0.1171	0.0045	0.0045	0.1142	0.1131	0.0005	0.0036	0.0137	0.1171	0.0084	0.0007	0.0004	0.0073	0.0031	0.0058	0.0059	0.0047	0.0070	0.1135	0.0055	0.0054	0.1059	0.1028	0.0008	0	0.0029	0.0136	0.1135	0.0083	0	0.0006	0.0066	0.0064	0.035	0.43708	D	0.117	0.36365	T	.	.	.	.	.	.	0.037127	0.24438	N	0.420350	1	0.08975	P	.	.	.	2.95	0.09635	T	-2.11	0.48020	N	0.092	0.07125	-1.0826	0.06852	T	0.001	0.00378	T	9	0.0016350746	0.00019	T	.	.	.	0.017	0.02790	.	.	.	.	0.1371697351331561	0.13640	0.082486663882	0.09310	0.276760399342	0.07045	T	.	.	.	-0.692027	0.00041	T	-0.670108	0.07602	T	0.00190848413790739	0.00020	T	0.522448	0.17034	T	0.06405324	0.13550	0.06045868	0.11518	0.06405324	0.13550	0.06045868	0.11517	-5.341	0.40347	T	.	.	0.085	0.10256	B	.;.	.;.	0.879961	0.12533	9.061	0.9602754076433615	0.28494	0.14011	0.18174	N	AEFDGBI	0.050059	0.08712	N	-0.807086790326673	0.13128	0.6446149	-0.816243374299534	0.14102	0.7351178	0.999997461138945	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.11	3.09	0.34677	0.921000	0.28338	1.388000	0.26092	0.674000	0.70861	0.000000	0.06391	0.001000	0.17328	0.080000	0.17246	0.0818:0.2939:0.6242:0.0	8.401	0.31749	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	0.003525	0.000000	0.001359	0.002924	0.000000	0.000000	0.012195	0.003788	0.05	1339.43	41	chr17	78799723	.	G	C	1339.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.443;DP=461;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-0.817;SOR=0.683	GT:AD:DP:GQ:PL	0/1:73,59:132:99:1351,0,1777	9	0	1	0
chr17	78803753	78803753	C	A	exonic	USP36	.	nonsynonymous SNV	USP36:NM_001385177:exon15:c.G1947T:p.K649N,USP36:NM_001385178:exon15:c.G1947T:p.K649N,USP36:NM_001385180:exon15:c.G1785T:p.K595N,USP36:NM_001321291:exon16:c.G2442T:p.K814N,USP36:NM_001385169:exon16:c.G2442T:p.K814N,USP36:NM_001385170:exon16:c.G2442T:p.K814N,USP36:NM_001385171:exon16:c.G2442T:p.K814N,USP36:NM_001385173:exon16:c.G2442T:p.K814N,USP36:NM_001385174:exon16:c.G2442T:p.K814N,USP36:NM_001385175:exon16:c.G2442T:p.K814N,USP36:NM_001385176:exon16:c.G2442T:p.K814N,USP36:NM_001385179:exon16:c.G1812T:p.K604N,USP36:NM_001385172:exon17:c.G2442T:p.K814N	.	356	1157	8	1	0	10	0.00430293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0007	0.0253594	0.0112	0.0006	0.0054	0.1146	0.0088	0.0019	0.0136	0.0039	0.0101098	1563	154602	rs3744797	0.0048	0.0048	0.0049	0.0047	0.1174	0.0047	0.0046	0.1146	0.1134	0.0005	0.0042	0.0138	0.1174	0.0086	0.0009	0.0004	0.0076	0.0045	0.0059	0.0059	0.0047	0.0071	0.1128	0.0055	0.0054	0.1053	0.1023	0.0008	0	0.0030	0.0135	0.1128	0.0085	0	0.0005	0.0066	0.0083	0.005	0.63226	D	0.148	0.32675	T	0.013	0.16609	B	0.012	0.16012	B	0.713402	0.09995	N	0.870904	1	0.08975	P	1.195	0.30194	L	3.07	0.08547	T	-1.87	0.43717	N	0.059	0.03069	-1.0731	0.08745	T	0.001	0.00222	T	9	0.0016081333	0.00019	T	.	.	.	0.060	0.17295	0.308	0.27967	.	.	0.2171002894588818	0.21626	0.355312255275	0.37297	0.330501645803	0.15011	T	0.01276	0.11155	T	-0.737979	0.00021	T	-0.736116	0.04056	T	0.0217261528440665	0.00878	T	0.40026	0.10182	T	0.15621261	0.35265	0.12450262	0.30008	0.15621261	0.35265	0.12450262	0.30007	-5.834	0.44870	T	.	.	0.225	0.45678	B	.;.	.;.	1.651801	0.21074	15.04	0.9562223025392248	0.27391	0.13666	0.17984	N	AEFDBI	0.044329	0.07119	N	-0.691532801729322	0.16261	0.8269387	-0.712225190250055	0.16656	0.8821724	0.999582460376187	0.40607	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.42	2.99	0.33673	0.208000	0.17212	2.091000	0.30548	0.599000	0.40250	0.000000	0.06391	0.017000	0.20586	0.012000	0.09680	0.0:0.8131:0.0:0.1869	10.010	0.41153	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	0.003024	0.000000	0.001359	0.002924	0.000000	0.000000	0.012270	0.003788	0.05	1105.43	49	chr17	78803753	.	C	A	1105.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.335;DP=465;ExcessHet=0;FS=3.214;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=0.091;SOR=0.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,31:72:99:0|1:78803753_C_A:1117,0,1499:78803753	9	0	1	0
chr17	80048756	80048756	G	C	exonic	CCDC40	.	nonsynonymous SNV	CCDC40:NM_001243342:exon5:c.G850C:p.D284H,CCDC40:NM_001330508:exon5:c.G850C:p.D284H,CCDC40:NM_017950:exon5:c.G850C:p.D284H	Ciliary dyskinesia, primary, 15	0	1480	41	1	0	43	0.014319	.	.	.	256485	Primary_ciliary_dyskinesia_15|Primary_ciliary_dyskinesia|Male_infertility|not_specified|not_provided	MONDO:MONDO:0013435,MedGen:C3151137,OMIM:613808,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MedGen:C0021364|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.174	.	0.0024	0.00139776	0.0041	0.0012	0.0013	0	0	0.0039	0.0145	0.0102	0.002639	408	154602	rs201042940	0.0025	0.0025	0.0023	0.0027	0.0191	0.0024	0.0024	0.0162	0.0151	0.0011	0.0013	0.0062	0	0.0002	0.0191	0.0021	0.0032	0.0087	0.0016	0.0016	0.0014	0.0018	0.0087	0.0014	0.0014	0.0066	0.0059	0.0004	0.0011	0.0008	0.0037	0	0.0002	0.0204	0.0021	0.0043	0.0087	0.004	0.72154	D	0.008	0.76473	D	1.0	0.90584	D	0.968	0.75168	D	.	.	.	.	0.633722	0.32813	D	2.83	0.82355	M	0.33	0.59314	T	-4.65	0.84601	D	0.53	0.55886	-0.2553	0.76216	T	0.347	0.71147	T	9	0.01399526	0.00295	T	.	.	.	0.174	0.44019	.	.	0.682504492806	0.67979	0.24220831427307404	0.24134	0.76162819002	0.64289	0.405483782291	0.25832	T	0.56747	0.85623	D	-0.250417	0.14046	T	-0.125376	0.61358	T	0.0493624269693155	0.05388	T	0.881912	0.64770	D	0.2342842	0.46246	0.24963558	0.50538	0.23541293	0.46377	0.29497436	0.55528	-7.763	0.62419	D	0.7666023762268043	0.84792	0.346	0.56831	A	.;.;.;.	.;.;.;.	2.747739	0.36012	20.1	0.99456458065418962	0.65581	0.51224	0.28846	D	AEFGBIJ	0.137980	0.25913	N	0.264883616036358	0.54378	3.603614	0.120231942431681	0.45586	2.81906	6.51723434342093E-4	0.07551	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.7	1.55	0.22356	0.526000	0.22680	0.951000	0.22923	0.676000	0.76740	0.531000	0.27197	0.039000	0.21534	0.958000	0.51230	0.2692:0.0:0.7308:0.0	8.520	0.32428	900	0.24599	.;.;.;.	.	.	.	.	.	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	0.017641	0.005051	0.019074	0.035088	0.050000	0.051724	0.003067	0.015152	0.1	3474.14	36	chr17	80048756	.	G	C	3474.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.113;DP=631;ExcessHet=0.2348;FS=0.406;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=1.13;SOR=0.652	GT:AD:DP:GQ:PL	0/1:92,85:177:99:1988,0,2321	8	0	2	0
chr17	80353039	80353039	C	T	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon33:c.C10403T:p.A3468V	.	0	1521	1	0	0	1	0.000328623	.	.	.	3043379	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.00631646711528	7.7e-05	0.000599042	0.0002	0	8.655e-05	0.0009	0.0002	0.0002	0	0.0001	0.0001682	26	154602	rs142798005	0.0002	0.0002	0.0002	0.0002	0.0054	0.0002	0.0002	0.0048	0.0046	2.987e-05	4.472e-05	0	0.0054	3.827e-05	0	3.237e-05	8.28e-05	0.0002	0.0001	0.0001	0.0001	0.0001	0.0021	8.657e-05	7.25e-05	0.0012	0.0009	7.216e-05	0	0.0001	0	0.0021	0	0	4.41e-05	0	0.0002	0.254	0.16903	T	0.26	0.23097	T	.	.	.	.	.	.	0.000039	0.00348	N	3.960300	1	0.08975	N	.	.	.	1.93	0.22881	T	-1.07	0.27876	N	0.078	0.05287	-1.0612	0.11459	T	0.029	0.12322	T	10	0.011434823	0.00250	T	0.006316	0.16580	T	0.021	0.04004	.	.	0.0297737177859	0.01360	.	.	0.326212291116	0.34772	0.196533188224	0.00363	T	0.019461	0.15501	T	-0.624186	0.00104	T	-0.764462	0.02955	T	0.032409523586149	0.02374	T	0.116088	0.00887	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09530	B	.;.	.;.	-0.295530	0.02636	0.333	0.829785224779647	0.14476	0.06935	0.12960	N	AEFDGBCI	0.032366	0.03643	N	-1.82817088362825	0.00480	0.02065534	-1.9618628707791	0.00368	0.01623934	0.999999921057964	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	-11.4	0.00070	-0.650000	0.05477	-1.974000	0.04407	-0.766000	0.03482	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1076:0.3611:0.2514:0.2798	2.554	0.04467	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	1	0	.	.	.	.	.	.	.	.	0.05	1288.43	36	chr17	80353039	.	C	T	1288.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=461;ExcessHet=0;FS=2.288;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=0.305;SOR=0.507	GT:AD:DP:GQ:PL	0/1:81,54:135:99:1300,0,1919	9	0	1	0
chr17	81565576	81565576	C	T	exonic	NPLOC4	.	nonsynonymous SNV	NPLOC4:NM_001369698:exon16:c.G1613A:p.R538Q,NPLOC4:NM_017921:exon16:c.G1598A:p.R533Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.0212225685932	8e-05	.	4.459e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs371370139	9.983e-06	1.505e-05	7.043e-06	1.3e-05	2.736e-05	5.79e-06	4.53e-06	5.46e-06	3.99e-06	0	2.736e-05	0	0	0	0	1.017e-05	1.722e-05	1.259e-05	3.284e-05	3.283e-05	2.569e-05	4.034e-05	0.0001	1.261e-05	7.98e-06	2.26e-05	9.07e-06	4.823e-05	0	0.0001	0	0	0	0	1.47e-05	0	0	0.084	0.32929	T	0.107	0.65728	T	0.894	0.54824	P	0.463	0.46548	P	0.000002	0.62929	D	0.095949	0.999964	0.81001	D	1.955	0.52871	M	.	.	.	-2.3	0.51157	N	0.27	0.37717	-0.6296	0.63588	T	0.241	0.60941	T	9	0.39325237	0.55043	T	0.021223	0.43954	T	0.367	0.68670	.	.	0.494737054661	0.49108	0.3348561710470445	0.33398	1.76827272956	0.91258	0.716780781746	0.69577	T	0.077252	0.41054	T	-0.0110075	0.50126	T	-0.253588	0.49462	T	0.571511328220367	0.35292	D	0.979335	0.92822	D	0.19193189	0.40841	0.16268128	0.37777	0.19193189	0.40840	0.16268128	0.37776	-3.631	0.18539	T	.	.	0.109	0.37615	B	.;.;.	.;.;.	4.216798	0.63755	24.6	0.99694346204846673	0.80180	0.92923	0.56880	D	AEFGBI	0.501252	0.53416	D	0.295894600881606	0.55941	3.758157	0.28421219525576	0.54617	3.626187	0.999999998939791	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.02	5.02	0.66742	3.298000	0.51525	5.743000	0.49584	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.080000	0.17246	0.0:1.0:0.0:0.0	18.591	0.91167	.	.	Nuclear pore localisation protein NPL4, C-terminal;Nuclear pore localisation protein NPL4, 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	.	.	.	.	.	.	.	.	0.05	1083.43	35	chr17	81565576	.	C	T	1083.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.376;DP=385;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=0.673;SOR=0.752	GT:AD:DP:GQ:PL	0/1:28,40:68:99:1095,0,667	9	0	1	0
chr17	82941473	82941473	T	C	exonic	TBCD	.	nonsynonymous SNV	TBCD:NM_005993:exon38:c.T3554C:p.L1185P	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, Autosomal recessive	430	1076	15	1	0	17	0.00783771	.	.	.	727615	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0043	0.00459265	0.0083	0.0023	0.0062	0.0025	0.0176	0.0088	0.0197	0.0102	0.0052975	819	154602	rs2292969	0.0077	0.0077	0.0076	0.0077	0.0173	0.0076	0.0075	0.0162	0.0157	0.0018	0.0035	0.0029	0.0173	0.0107	0.0030	0.0076	0.0072	0.0090	0.0062	0.0062	0.0055	0.0070	0.0078	0.0059	0.0058	0.0072	0.0070	0.0018	0	0.0067	0.0035	0.0062	0.0135	0.0068	0.0078	0.0066	0.0075	0.032	0.44694	D	0.002	0.92824	D	0.158	0.28271	B	0.067	0.27542	B	.	.	.	.	1	0.81001	D	2.945	0.84822	M	1.96	0.27331	T	-3.56	0.68880	D	0.31	0.40063	-0.4966	0.68772	T	0.270	0.64109	T	8	0.0075756013	0.00172	T	.	.	.	0.174	0.44019	.	.	0.657190473102	0.65432	0.5342911152067392	0.53354	0.552243147408	0.52039	0.600276112556	0.52943	T	0.195792	0.55198	T	-0.328184	0.06249	T	-0.229254	0.51844	T	0.0382744578565332	0.03381	T	0.760024	0.42899	T	0.5905107	0.72179	0.55882275	0.74477	0.5963501	0.72496	0.55882275	0.74477	-3.857	0.21659	T	.	.	0.082	0.14660	B	.;.;.	.;.;.	2.597518	0.33711	19.42	0.99323149992308701	0.59469	0.88904	0.49062	D	AEFDGBI	0.790059	0.71906	D	0.289027231533402	0.55591	3.72321	0.310240003057404	0.56139	3.777063	0.399914729279491	0.20121	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.96	4.96	0.65153	4.081000	0.57350	3.396000	0.38099	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.0:0.0:1.0	11.332	0.48716	.	.	.;.;.	.	.	.	.	rs2292969	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	0.004541	0.005051	0.001359	0.008824	0.000000	0.000000	0.006098	0.003817	0.05	1359.43	44	chr17	82941473	.	T	C	1359.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.493;DP=464;ExcessHet=0;FS=1.49;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.056;SOR=0.661	GT:AD:DP:GQ:PL	0/1:53,62:115:99:1371,0,1246	9	0	1	0
chr18	3089561	3089561	G	A	exonic	MYOM1	.	nonsynonymous SNV	MYOM1:NM_019856:exon27:c.C3757T:p.R1253W,MYOM1:NM_003803:exon28:c.C4045T:p.R1349W	.	.	.	.	.	.	.	.	.	.	.	468819	Hypertrophic_cardiomyopathy|not_specified	Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.443	0.0550707449951	.	.	7.809e-05	0	0	0.0007	0	1.575e-05	0	0.0001	6.47e-05	10	154602	rs762476268	3.709e-05	4.446e-05	3.416e-05	4.004e-05	0.0003	2.905e-05	2.602e-05	0.0001	0.0001	0	4.512e-05	0	0.0003	0	0	2.975e-05	8.313e-05	4.696e-05	8.543e-05	8.534e-05	0.0001	5.376e-05	0.0010	4.958e-05	3.963e-05	0.0004	0.0002	2.409e-05	0.0044	0	0	0.0010	0	0	2.941e-05	0.0005	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.92359	D	0.000000	0.84330	D	0.047503	0.999338	0.46701	D	2.01	0.54746	M	0.8	0.58897	T	-7.27	0.94404	D	0.42	0.55626	-0.2840	0.75431	T	0.312	0.68184	T	10	0.13920215	0.26469	T	0.055071	0.66098	D	0.443	0.74588	.	.	0.811525194345	0.80975	0.7612914839675	0.76077	0.298367429644	0.32220	0.627437114716	0.56782	T	0.41142	0.76587	T	-0.0933138	0.37530	T	-0.0268771	0.68575	D	0.579362502467047	0.35594	D	0.990301	0.96997	D	0.9086534	0.92169	0.7654029	0.86142	0.9086534	0.92170	0.7654029	0.86143	-11.792	0.85811	D	0.6407532412734096	0.71143	0.521	0.65533	A	.;.;.	.;.;.	3.690276	0.52580	23.3	0.99922325226235553	0.98852	0.96431	0.69105	D	AEFI	0.856941	0.77424	D	0.433544290313777	0.63277	4.558295	0.329724016605235	0.57294	3.894562	0.2027363714107	0.18144	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.97	0.191	0.14411	2.479000	0.44857	0.548000	0.19395	0.618000	0.50648	1.000000	0.71638	0.988000	0.31051	0.994000	0.71098	0.0:0.0:0.2049:0.7951	16.889	0.85949	788	0.46569	.;.;.	.	.	.	.	.	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	0.05	267.43	38	chr18	3089561	.	G	A	267.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.029;DP=264;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=-0.656;SOR=0.602	GT:AD:DP:GQ:PL	0/1:19,14:33:99:279,0,401	9	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	53060.1	364	chr18	9887397	.	C	*	53060.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.52;DP=4775;ExcessHet=0.2065;FS=0;InbreedingCoeff=0.2;MLEAC=6;MLEAF=0.3;MQ=59.51;MQRankSum=-0.379;QD=15.12;ReadPosRankSum=-0.189;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:3,172:425:99:.:.:13477,6846,8930:.	4	0	6	0
chr18	10773418	10773418	T	A	exonic	PIEZO2	.	nonsynonymous SNV	PIEZO2:NM_022068:exon18:c.A2704T:p.T902S,PIEZO2:NM_001378183:exon20:c.A2779T:p.T927S	Arthrogryposis, distal, type 3, Autosomal dominant;Arthrogryposis, distal, type 5, Autosomal dominant;Arthrogryposis, distal, with impaired proprioception and touch, Autosomal recessive	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00803099945335	.	.	0.0003	0	0	0	0	0	0	0.0008	3.88e-05	6	154602	rs765555471	4.404e-05	4.241e-05	1.996e-05	6.877e-05	0.0006	3.494e-05	3.167e-05	0.0005	0.0004	0	0	0	0	0	0.0005	6.488e-06	1.726e-05	0.0006	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	0	0	0.0002	0.776	0.03326	T	0.658	0.06836	T	0.0	0.02946	B	0.001	0.04355	B	0.013887	0.01376	U	7.894050	0.999998	0.08975	N	1.555	0.39373	L	1.0	0.41392	T	-0.69	0.19720	N	0.289	0.32701	-1.0578	0.12311	T	0.075	0.30303	T	10	0.015678495	0.00329	T	0.008031	0.21290	T	0.053	0.14996	0.261	0.20473	0.043077524339	0.03247	0.08573925928855586	0.08507	0.271055600688	0.29627	0.413542240858	0.26947	T	0.003961	0.03373	T	-0.492164	0.00632	T	-0.590702	0.13604	T	0.017641257298882	0.00496	T	0.455254	0.13467	T	0.034007113	0.03734	0.03567973	0.02867	0.034007113	0.03734	0.03567973	0.02866	-2.583	0.06450	T	0.08065350969727716	0.04090	0.105	0.19438	B	.;.;.;.	.;.;.;.	0.609843	0.09781	6.549	0.81053975942947143	0.13497	0.30682	0.24145	N	AEFBI	0.144554	0.26755	N	-0.88360875434137	0.11232	0.5409388	-0.812680402127601	0.14189	0.7400814	0.999198082266831	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.5	3.07	0.34476	0.135000	0.15775	-0.437000	0.09184	0.605000	0.46263	0.005000	0.17040	0.004000	0.18990	0.930000	0.46718	0.1273:0.0698:0.0:0.8029	7.481	0.26573	790	0.46189	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1065.43	33	chr18	10773418	.	T	A	1065.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.54;DP=389;ExcessHet=0;FS=1.88;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.857;SOR=0.464	GT:AD:DP:GQ:PL	0/1:42,43:85:99:1077,0,1043	9	0	1	0
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T,PTPN2:NM_002828:exon7:c.G826A:p.A276T,PTPN2:NM_080422:exon7:c.G826A:p.A276T,PTPN2:NM_080423:exon7:c.G826A:p.A276T,PTPN2:NM_001207013:exon8:c.G895A:p.A299T	.	.	.	.	.	.	.	.	.	.	.	3585126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	461.14	36	chr18	12814235	.	C	T	461.14	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-1.277;DP=363;ExcessHet=4.5998;FS=156.993;InbreedingCoeff=-0.5318;MLEAC=7;MLEAF=0.389;MQ=59.96;MQRankSum=0;QD=1.97;ReadPosRankSum=0.222;SOR=8.425	GT:AD:DP:GQ:PL	0/1:27,16:43:95:95,0,498	3	0	6	1
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4	3102.99	249	chr18	14513679	.	T	G	3102.99	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.54;DP=1927;ExcessHet=10.3881;FS=9.616;InbreedingCoeff=-0.6668;MLEAC=8;MLEAF=0.4;MQ=51.26;MQRankSum=-8.212;QD=2.03;ReadPosRankSum=-3.641;SOR=1.694	GT:AD:DP:GQ:PL	0/1:209,42:251:99:524,0,5146	2	0	8	0
chr18	31355276	31355276	T	C	exonic	DSG1	.	nonsynonymous SNV	DSG1:NM_001942:exon15:c.T3080C:p.I1027T	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, Autosomal recessive;Keratosis palmoplantaris striata I, AD, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1374829	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.00992475357004	7.7e-05	.	7.467e-05	0	8.651e-05	0	0	0.0001	0	6.234e-05	6.47e-05	10	154602	rs149564748	7.527e-05	7.593e-05	6.944e-05	8.116e-05	9.355e-05	6.384e-05	5.94e-05	7.862e-05	7.346e-05	0	2.237e-05	0	0	0	0	9.355e-05	1.656e-05	4.642e-05	5.913e-05	5.91e-05	7.708e-05	4.035e-05	0.0002	3.077e-05	2.21e-05	3.762e-05	2.575e-05	0	0	0.0001	0	0	0	0	8.82e-05	0	0.0002	0.087	0.32453	T	0.146	0.62352	T	0.094	0.25382	B	0.026	0.20792	B	0.116016	0.19210	N	0.507121	0.987897	0.25138	N	1.24	0.30952	L	0.23	0.59717	T	-1.79	0.42191	N	0.058	0.03392	-0.9720	0.36776	T	0.144	0.46714	T	10	0.082832694	0.13713	T	0.009925	0.25833	T	0.052	0.14661	.	.	0.266724437049	0.26276	0.2511879651734945	0.25032	0.0906102888883	0.10225	0.330098778009	0.14949	T	0.046535	0.27452	T	-0.308581	0.07874	T	-0.45533	0.27108	T	0.0681469664010789	0.08389	T	0.70483	0.31676	T	0.14394285	0.33061	0.1268384	0.30542	0.14394285	0.33061	0.1268384	0.30542	-3.886	0.22092	T	.	.	0.079	0.07460	B	.;.	.;.	3.213820	0.43755	21.8	0.95573968782034324	0.27270	0.92541	0.55954	D	AEFDBI	.	.	.	-0.0547368733630735	0.39390	2.322208	0.139854305073548	0.46606	2.90396	0.999999754678052	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.11	6.11	0.99132	5.256000	0.65286	5.034000	0.46851	0.665000	0.62972	0.847000	0.30396	0.932000	0.28569	0.814000	0.38357	0.0:0.0:0.0:1.0	16.702	0.85216	531	0.73574	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	820.43	41	chr18	31355276	.	T	C	820.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.553;DP=425;ExcessHet=0;FS=1.968;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.043;SOR=0.458	GT:AD:DP:GQ:PL	0/1:42,33:75:99:832,0,1209	9	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	.	.	.	.	.	.	.	.	0.4375	1362.11	52	chr18	31541297	.	G	A	1362.11	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-0.721;DP=562;ExcessHet=7.0302;FS=370.853;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.35;ReadPosRankSum=1.53;SOR=10.577	GT:AD:DP:GQ:PL	0/1:35,32:70:99:275,0,495	1	0	7	2
chr18	34794117	34794117	A	G	exonic	DTNA	.	nonsynonymous SNV	DTNA:NM_001390:exon3:c.A229G:p.N77D,DTNA:NM_001391:exon3:c.A229G:p.N77D,DTNA:NM_001198941:exon4:c.A229G:p.N77D,DTNA:NM_032978:exon4:c.A229G:p.N77D,DTNA:NM_001128175:exon5:c.A229G:p.N77D,DTNA:NM_001198938:exon5:c.A229G:p.N77D,DTNA:NM_001198939:exon5:c.A229G:p.N77D,DTNA:NM_001198940:exon5:c.A229G:p.N77D,DTNA:NM_001198945:exon5:c.A229G:p.N77D,DTNA:NM_001392:exon5:c.A229G:p.N77D,DTNA:NM_032975:exon5:c.A229G:p.N77D,DTNA:NM_032979:exon5:c.A229G:p.N77D	Left ventricular noncompaction 1, with or without congenital heart defects, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	439168	not_specified|Left_ventricular_noncompaction_1|not_provided	MedGen:CN169374|MONDO:MONDO:0011403,MedGen:C1858725,OMIM:604169,Orphanet:54260|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	0.0233338786392	0.0002	.	0.0001	0	0	0.0001	0	0.0002	0.0011	0	9.7e-05	15	154602	rs147782267	7.046e-05	7.046e-05	8.167e-05	5.913e-05	5.039e-05	5.913e-05	5.522e-05	3.171e-05	2.836e-05	0	0	0.0017	5.039e-05	0	0	4.137e-05	0.0002	0	7.222e-05	7.218e-05	8.994e-05	5.37e-05	0.0002	3.968e-05	3.125e-05	1.972e-05	1.124e-05	0	0	0	0.0017	0.0002	0	0	5.88e-05	0	0	0.645	0.19430	T	0.044	0.49942	D	0.222	0.33382	B	0.149	0.34106	B	0.000382	0.44960	D	0.231515	0.841251	0.81001	D	0.46	0.12951	N	0.26	0.59314	T	-2.17	0.52612	N	0.495	0.56576	-0.9772	0.35638	T	0.109	0.39486	T	10	0.04596007	0.03728	T	0.023334	0.46295	T	0.062	0.17934	.	.	0.714675657368	0.71216	0.4403739408731822	0.43954	0.448870680343	0.44700	0.512057781219	0.40510	T	0.025455	0.66109	T	-0.245436	0.14663	T	-0.364626	0.37517	T	0.100253373632028	0.12385	T	0.952705	0.82322	D	0.25371623	0.48395	0.22237366	0.47080	0.25371623	0.48395	0.22237366	0.47079	-12.959	0.89589	D	0.12363571310111428	0.12010	0.180	0.45678	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.386569	0.46868	22.4	0.99134666671583571	0.53356	0.91995	0.54713	D	AEFDGBI	0.527684	0.54952	D	-0.212891744152622	0.32605	1.840543	-0.0175229851377776	0.38924	2.300237	0.999999797415097	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.644132	0.48003	0	0.613276	0.41899	0	.	.	5.43	5.43	0.79006	4.567000	0.60566	11.279000	0.91668	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.804000	0.37906	1.0:0.0:0.0:0.0	14.339	0.66170	577	0.69927	.;.;.;EF-hand domain, type 1;EF-hand domain, type 1;.;.;.;.;.;.;EF-hand domain, type 1;EF-hand domain, type 1;.;EF-hand domain, type 1;EF-hand domain, type 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1990.43	35	chr18	34794117	.	A	G	1990.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.139;DP=493;ExcessHet=0;FS=2.642;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.014;SOR=0.628	GT:AD:DP:GQ:PL	0/1:87,87:174:99:2002,0,2079	9	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	.	.	.	.	.	.	.	.	0.15	558.45	33	chr18	37067196	.	T	C	558.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-6.944;DP=1078;ExcessHet=0.7463;FS=174.631;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.72;ReadPosRankSum=1.47;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:219,43:262:99:.:.:178,0,7690:.	7	0	3	0
chr18	37067197	37067197	G	A	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353919:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353918:exon7:c.G872A:p.C291Y,KIAA1328:NM_020776:exon7:c.G884A:p.C295Y,KIAA1328:NM_001353920:exon8:c.G32A:p.C11Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00495282325438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	0.02004	T	1.0	0.03324	T	0.001	0.12183	B	0.002	0.10090	B	0.066107	0.21833	N	0.492799	1	0.08975	N	0.995	0.25082	L	1.0	0.41392	T	-2.1	0.47852	N	0.081	0.14054	-1.0339	0.19205	T	0.038	0.16376	T	10	0.04781583	0.04150	T	0.004953	0.12473	T	0.114	0.32008	0.24	0.17218	0.0884992946249	0.08302	0.12486170782916084	0.12412	0.0693334402013	0.07761	0.349928975105	0.17912	T	0.024333	0.18409	T	-0.281787	0.10479	T	-0.642544	0.09485	T	0.114724479615688	0.13906	T	0.662434	0.28129	T	0.03804784	0.04996	0.067671165	0.14031	0.03804784	0.04996	0.067671165	0.14031	-3.62	0.18147	T	.	.	0.075	0.13174	B	.;.;.;.;.	.;.;.;.;.	0.712451	0.10815	7.495	0.20846672331132926	0.00768	0.17205	0.19735	N	AEFGI	0.089171	0.18075	N	-0.990119155275313	0.08813	0.4147193	-0.924159477584458	0.11525	0.5876435	4.19662457214258E-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	1.01	0.19044	0.347000	0.19760	1.733000	0.28342	0.676000	0.76740	0.648000	0.28154	0.820000	0.27118	0.027000	0.12703	0.2504:0.2192:0.3296:0.2008	0.508	0.00551	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	.	.	.	.	.	.	.	.	0.2	592.8	251	chr18	37067197	.	G	A	592.8	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-7.587;DP=1619;ExcessHet=1.5895;FS=165.612;InbreedingCoeff=-0.2259;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=1.5;SOR=11.043	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:219,30:260:67:.:.:67,0,7731:.	6	0	4	0
chr18	46533293	46533293	C	T	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001308013:exon8:c.G623A:p.R208Q,LOXHD1:NM_001145472:exon10:c.G911A:p.R304Q,LOXHD1:NM_001384474:exon28:c.G4244A:p.R1415Q,LOXHD1:NM_144612:exon28:c.G4244A:p.R1415Q	Deafness, autosomal recessive 77, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	756467	not_provided|LOXHD1-related_disorder|Inborn_genetic_diseases|Autosomal_recessive_nonsyndromic_hearing_loss_77	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.422	0.0773955985352	0.0007	0.000399361	0.0003	0.0025	0	0	0	0	0	0	7.76e-05	12	154602	rs374728484	6.645e-05	6.362e-05	6.627e-05	6.664e-05	0.0023	5.53e-05	5.129e-05	0.0019	0.0017	0.0023	0.0001	0	8.394e-05	0	0	1.854e-06	0.0002	0	0.0007	0.0007	0.0006	0.0008	0.0024	0.0006	0.0005	0.0020	0.0018	0.0024	0	0.0003	0	0	0	0	0	0.0009	0.0002	0.018	0.58626	D	0.008	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.003714	0.34585	N	0.296966	0.996829	0.43441	D	.	.	.	-0.16	0.65378	T	-3.04	0.62863	D	0.479	0.54671	-0.2249	0.77021	T	0.431	0.77251	T	10	0.042151928	0.02938	T	0.077396	0.72761	D	0.422	0.73078	.	.	0.350088858571	0.34617	0.7385305804961996	0.73798	.	.	0.593587875366	0.52000	T	0.06482	0.32531	T	-0.310801	0.07679	T	-0.225079	0.52247	T	0.179427893704415	0.19199	T	0.963904	0.92384	D	0.14613418	0.33468	0.17977802	0.40734	0.14613418	0.33467	0.17977802	0.40733	-11.234	0.80925	D	.	.	0.301	0.59398	B	.;.;.;.;.;.	.;.;.;.;.;.	5.267804	0.88451	29.6	0.99298319788728595	0.58541	0.95188	0.63763	D	AEFBI	0.777791	0.71049	D	0.735772273073473	0.81976	7.650053	0.705401688450861	0.82790	7.854872	0.999821045946097	0.43622	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.48	5.48	0.80675	5.824000	0.68964	7.631000	0.62734	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:0.9254:0.0:0.0746	13.624	0.61621	946	0.12043	PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 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	.	.	.	.	.	.	.	.	0.05	1353.43	33	chr18	46533293	.	C	T	1353.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.119;DP=415;ExcessHet=0;FS=2.625;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.435;SOR=0.446	GT:AD:DP:GQ:PL	0/1:49,58:107:99:1365,0,1088	9	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	.	.	.	.	.	.	.	.	0.4444	1077.5	85	chr18	65824683	.	C	G	1077.5	.	AC=8;AF=0.444;AN=18;BaseQRankSum=0.26;DP=852;ExcessHet=10.3881;FS=190.814;InbreedingCoeff=-0.7227;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=1.69;ReadPosRankSum=1.05;SOR=10.452	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,23:113:45:0|1:65824683_C_G:45,0,2081:65824683	1	0	8	1
chr18	75285823	75285823	C	T	exonic	TSHZ1	.	nonsynonymous SNV	TSHZ1:NM_001308210:exon2:c.C416T:p.S139L,TSHZ1:NM_005786:exon2:c.C281T:p.S94L	Aural atresia, congenital, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0338018592142	.	0.000199681	2.528e-05	0.0001	0	0.0001	0	1.53e-05	0	0	2.59e-05	4	154602	rs202178783	1.231e-05	1.231e-05	1.361e-05	1.1e-05	8.945e-05	7.7e-06	6.35e-06	2.985e-05	1.804e-05	0	8.945e-05	0	2.519e-05	0	0	1.169e-05	0	0	3.285e-05	3.281e-05	2.571e-05	4.031e-05	0.0002	1.261e-05	7.98e-06	7.98e-06	2.99e-06	4.817e-05	0	0	0	0.0002	0	0	2.941e-05	0	0	0.003	0.68238	D	0.013	0.67890	D	0.992	0.64738	D	0.642	0.52168	P	0.559478	0.11351	N	0.753193	0.999702	0.20638	N	2.645	0.77386	M	2.51	0.26445	T	-1.18	0.80682	N	0.452	0.48963	-1.0321	0.19777	T	0.065	0.26737	T	10	0.10943073	0.20413	T	0.033802	0.55234	D	0.211	0.50185	.	.	0.46885814876	0.46514	0.37170766583637427	0.37084	0.347164696279	0.36609	0.495270490646	0.38170	T	0.147126	0.48506	T	-0.202909	0.20387	T	-0.303539	0.44350	T	0.277972549200058	0.24086	T	0.907309	0.67374	D	0.14732246	0.33683	0.16713934	0.38576	0.14732246	0.33683	0.16713934	0.38575	-3.414	0.15300	T	.	.	0.103	0.27939	B	.;.;.	.;.;.	4.616673	0.73272	26.0	0.98019857813896494	0.37620	0.86445	0.45727	D	AEFDBI	0.521762	0.54606	D	-0.0243245680421337	0.40757	2.425856	-0.10256909152508	0.35285	2.03967	0.929157677337903	0.26957	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	4.96	4.96	0.65153	5.666000	0.67729	7.649000	0.63599	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.835000	0.39381	0.0:1.0:0.0:0.0	16.408	0.83536	1000	0.00083	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2922.43	102	chr18	75285823	.	C	T	2922.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.642;DP=929;ExcessHet=0;FS=5.898;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-0.433;SOR=1.044	GT:AD:DP:GQ:PL	0/1:135,121:256:99:2934,0,3164	9	0	1	0
chr19	746498	746498	C	T	exonic	PALM	.	nonsynonymous SNV	PALM:NM_001040134:exon8:c.C716T:p.A239V,PALM:NM_002579:exon9:c.C848T:p.A283V	.	.	.	.	.	.	.	.	.	.	.	1622166	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.118	.	.	0.00479233	0.0016	0	0.0050	0.0135	0	8.428e-05	0	6.242e-05	0.0013066	202	154602	rs188184317	0.0004	0.0004	0.0004	0.0004	0.0088	0.0004	0.0004	0.0081	0.0078	0	0.0037	0.0005	0.0088	0	0	7.198e-06	0.0006	2.322e-05	0.0007	0.0007	0.0007	0.0006	0.0118	0.0006	0.0005	0.0094	0.0086	2.407e-05	0	0.0018	0.0009	0.0118	0	0	4.411e-05	0.0024	0	0.098	0.30800	T	0.328	0.20745	T	0.999	0.77913	D	0.93	0.66466	D	0.057840	0.22450	N	0.438594	0.983598	0.24871	N	2.285	0.65182	M	2.03	0.20959	T	-1.72	0.40850	N	0.185	0.22614	-1.0718	0.09022	T	0.047	0.19998	T	10	0.0047614574	0.00101	T	.	.	.	0.118	0.32913	.	.	0.41859458845	0.41473	0.38475656102346106	0.38390	0.532187503926	0.50693	0.60855036974	0.54111	T	0.035397	0.23703	T	-0.53541	0.00357	T	-0.530179	0.19268	T	0.0523603404593343	0.05910	T	0.837416	0.59928	T	0.14912626	0.34013	0.1276646	0.30727	0.14912626	0.34012	0.1276646	0.30726	-4.206	0.26838	T	.	.	0.189	0.40683	B	.;.;.;.	.;.;.;.	3.781525	0.54376	23.5	0.9981551519521521	0.89885	0.83633	0.42737	D	AEFDBI	0.376854	0.46084	N	0.263808312233776	0.54326	3.598368	0.273280935127986	0.53984	3.56495	0.927850544575192	0.26905	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.82	4.82	0.61641	0.758000	0.26113	4.715000	0.44476	0.524000	0.24156	0.354000	0.25792	1.000000	0.68203	0.571000	0.30675	0.0:1.0:0.0:0.0	16.855	0.85870	994	0.00715	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1558.43	35	chr19	746498	.	C	T	1558.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.449;DP=465;ExcessHet=0;FS=1.435;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=1.15;SOR=0.551	GT:AD:DP:GQ:PL	0/1:62,66:128:99:1570,0,1491	9	0	1	0
chr19	1223126	1223126	C	G	exonic	STK11	.	nonsynonymous SNV	STK11:NM_000455:exon8:c.C1062G:p.F354L	Melanoma, malignant, somatic (3);Pancreatic cancer, Autosomal dominant, Somatic mutation, Multifactorial;Peutz-Jeghers syndrome, Autosomal dominant;Testicular tumor, somatic	0	1511	11	0	0	11	0.00362677	.	.	.	22500	Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_specified|not_provided|Malignant_tumor_of_breast|Melanoma,_cutaneous_malignant,_susceptibility_to,_1|Peutz-Jeghers_syndrome|Carcinoma_of_pancreas|Germ_cell_tumor_of_testis	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN221562|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0007963,MedGen:C1835047,OMIM:155600,Orphanet:618|MONDO:MONDO:0008280,MeSH:D010580,MedGen:C0031269,OMIM:175200,Orphanet:2869|MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,Orphanet:1333,Orphanet:217074|MONDO:MONDO:0010108,MedGen:C1336708,OMIM:273300,Orphanet:363504	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.156	.	0.0038	0.0111821	0.0058	0.0008	0.0009	0.0365	0.0007	0.0042	0.0028	0.0030	0.0048576	751	154602	rs59912467	0.0052	0.0052	0.0054	0.0051	0.0393	0.0051	0.0051	0.0377	0.0371	0.0010	0.0012	0.0061	0.0393	0.0007	0.0040	0.0046	0.0068	0.0030	0.0040	0.0040	0.0039	0.0040	0.0408	0.0037	0.0036	0.0363	0.0346	0.0010	0.0022	0.0026	0.0072	0.0408	0.0003	0.0068	0.0036	0.0024	0.0063	0.244	0.17468	T	0.566	0.10245	T	0.062	0.23277	B	0.04	0.23831	B	0.003767	0.34511	N	0.324638	0.00688864	0.23769	A	1.78	0.46185	L	-0.27	0.67367	T	-1.38	0.34198	N	0.324	0.36779	-0.9853	0.33760	T	0.032	0.13592	T	9	0.05135572	0.05003	T	.	.	.	0.156	0.40720	0.789	0.91142	0.381939241115	0.37810	0.18934256613256994	0.18852	0.0457737829898	0.04968	0.509584367275	0.40164	T	0.283548	0.78293	T	-0.557979	0.00261	T	-0.548512	0.17468	T	0.00313528897622283	0.00033	T	0.737926	0.35508	T	0.057750497	0.11534	0.07133077	0.15261	0.06577843	0.14090	0.07267152	0.15704	-2.86	0.08749	T	0.1138401736734748	0.10008	0.649	0.70901	P	.;.	.;.	-0.763119	0.01182	0.057	0.56351914956756033	0.05534	0.00944	0.03642	N	AEFDGBHCI	0.098805	0.19902	N	-1.74830152434135	0.00684	0.02953055	-1.90158491065381	0.00486	0.02153518	0.999999999991109	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.779548	0.98927	0	0.636	0.56748	0	.	.	3.79	-7.52	0.01198	-1.116000	0.03397	-3.917000	0.02454	-1.665000	0.00808	0.011000	0.18532	0.000000	0.08366	0.011000	0.09372	0.0:0.409:0.1149:0.4761	7.814	0.28412	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	0	0	0	1	0	1	0	0.001514	0.000000	0.002725	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	2495.43	33	chr19	1223126	.	C	G	2495.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.972;DP=537;ExcessHet=0;FS=2.966;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.849;SOR=0.854	GT:AD:DP:GQ:PL	0/1:113,109:222:99:2507,0,2509	9	0	1	0
chr19	1816442	1816442	G	C	exonic	REXO1	.	nonsynonymous SNV	REXO1:NM_020695:exon14:c.C3445G:p.L1149V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0185939576694	.	.	1.861e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs780598344	4.796e-06	4.788e-06	0	9.641e-06	8.12e-05	1.99e-06	1.28e-06	3.767e-05	2.663e-05	0	0	0	0	0	0	0	0	8.12e-05	6.569e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.355	0.12109	T	0.113	0.36901	T	0.563	0.38396	P	0.374	0.43683	B	0.000036	0.55875	D	0.123056	0.832777	0.34944	D	2.3	0.65703	M	1.94	0.22678	T	-1.87	0.43717	N	0.411	0.45142	-1.0575	0.12388	T	0.052	0.21999	T	10	0.29645532	0.47210	T	0.018594	0.40703	T	0.107	0.30369	0.513	0.61153	0.218628672733	0.21463	0.5041923986478717	0.50341	0.495459876918	0.48080	0.606400847435	0.53808	T	0.040496	0.25546	T	-0.294518	0.09186	T	-0.457232	0.26900	T	0.717337608337402	0.41565	D	0.960404	0.85096	D	0.0865907	0.20133	0.07845002	0.17573	0.0865907	0.20133	0.07845002	0.17572	-7.791	0.59637	D	.	.	0.329	0.55117	B	.;.	.;.	3.567158	0.50221	22.9	0.99735659099986684	0.83119	0.93340	0.57955	D	AEFBI	0.675959	0.64116	D	0.121527742664544	0.47469	2.97213	0.119392877966648	0.45541	2.816	0.00164438703123643	0.08740	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.01	2.97	0.33479	4.751000	0.61865	3.761000	0.39718	0.578000	0.29377	1.000000	0.71638	1.000000	0.68203	0.768000	0.36443	0.3088:0.0:0.6912:0.0	4.276	0.10258	952	0.10565	Exonuclease, RNase T/DNA polymerase III|RNA exonuclease 1-like, exonuclease domain;Exonuclease, RNase T/DNA polymerase III|Exonuclease, RNase T/DNA polymerase III|RNA exonuclease 1-like, exonuclease 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	.	.	.	.	.	.	.	.	0.05	567.43	36	chr19	1816442	.	G	C	567.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.12;DP=399;ExcessHet=0;FS=6.064;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.27;ReadPosRankSum=-1.538;SOR=0.877	GT:AD:DP:GQ:PL	0/1:47,31:78:99:579,0,1204	9	0	1	0
chr19	4171905	4171905	T	C	exonic	CREB3L3	.	nonsynonymous SNV	CREB3L3:NM_001271995:exon10:c.T1319C:p.V440A,CREB3L3:NM_001271996:exon10:c.T1316C:p.V439A,CREB3L3:NM_032607:exon10:c.T1322C:p.V441A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0847384949965	.	.	1.003e-05	0	0	0	0	1.849e-05	0	0	6.5e-06	1	154602	rs779615016	6.849e-07	6.84e-07	0	1.377e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.11085	T	0.539	0.09795	T	0.0	0.07471	B	0.001	0.06944	B	0.404043	0.04552	N	1.545720	0.99998	0.30126	N	0.625	0.15840	N	-1.79	0.83893	D	-0.62	0.18248	N	0.036	0.07262	-0.8048	0.54861	T	0.260	0.63066	T	10	0.053468674	0.05542	T	0.084738	0.74389	D	0.173	0.43840	0.37	0.38013	0.685456958132	0.68276	0.09355673127751435	0.09287	0.121745610629	0.13719	0.386765539646	0.23212	T	0.081471	0.36606	T	-0.197287	0.21195	T	-0.521166	0.20175	T	0.0161838810890913	0.00393	T	0.341266	0.07400	T	0.03231076	0.03233	0.050798908	0.08046	0.03231076	0.03232	0.050798908	0.08045	-1.945	0.03026	T	.	.	0.072	0.04198	B	.;.;.	.;.;.	0.310590	0.06857	3.388	0.72996625140192917	0.10170	0.00321	0.01686	N	AEFDBCI	0.098657	0.19875	N	-1.18471501821477	0.05231	0.2379743	-1.18209270741944	0.06208	0.2981324	0.108116942133187	0.16574	0.59774	0.34471	0	0.610034	0.51514	0	0.596491	0.31596	0	0.542086	0.14980	0	.	.	3.83	0.221	0.14559	-0.207000	0.09388	-0.005000	0.13145	0.580000	0.29708	0.000000	0.06391	0.002000	0.18203	0.151000	0.20341	0.0:0.525:0.0:0.475	5.485	0.16038	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	.	.	.	.	.	.	.	.	0.05	809.43	36	chr19	4171905	.	T	C	809.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.317;DP=402;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=1.68;SOR=0.739	GT:AD:DP:GQ:PL	0/1:41,37:78:99:821,0,1063	9	0	1	0
chr19	6684412	6684412	G	T	exonic	C3	.	nonsynonymous SNV	C3:NM_000064:exon33:c.C4148A:p.T1383N	C3 deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	622120	Age_related_macular_degeneration_9|Atypical_hemolytic-uremic_syndrome_with_C3_anomaly|Complement_component_3_deficiency|not_provided	MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925,Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779,Orphanet:280133|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.090	0.0355977832293	7.7e-05	.	9.06e-05	0	0	0	0.0002	0.0001	0	0.0002	7.12e-05	11	154602	rs139100972	0.0001	0.0001	0.0001	0.0001	0.0003	9.334e-05	8.818e-05	0.0002	0.0002	2.987e-05	0.0003	0	0	1.872e-05	0	0.0001	9.935e-05	0.0002	0.0001	0.0001	0.0001	0.0001	0.0005	6.51e-05	5.322e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	0.0001	0	0	0.036	0.43393	D	0.306	0.40110	T	0.267	0.31683	B	0.328	0.42011	B	0.745233	0.09744	N	0.889824	1	0.08975	N	2.72	0.79541	M	1.51	0.30937	T	-1.62	0.38924	N	0.768	0.76573	-0.9295	0.44212	T	0.114	0.40627	T	10	0.07993618	0.12917	T	0.035598	0.56449	D	0.090	0.26093	.	.	0.383278103999	0.37944	0.654829751042006	0.65418	0.893539204681	0.70324	0.365060985088	0.20120	T	0.111076	0.42628	T	-0.476637	0.00774	T	-0.594472	0.13281	T	0.0744952192898771	0.09267	T	0.723828	0.33737	T	0.11335231	0.26772	0.10496659	0.25223	0.122153655	0.28711	0.12852927	0.30920	-7.124	0.54933	T	0.5881665006178586	0.65495	0.393	0.61623	A	.;.	.;.	1.429961	0.18479	13.76	0.92197123050211582	0.21566	0.15785	0.19080	N	AEFDBCI	0.437231	0.49712	N	-0.795294492064554	0.13432	0.6616512	-0.89075522230061	0.12312	0.632604	0.984899966926433	0.30793	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.05	1.59	0.22622	0.423000	0.21032	1.723000	0.28273	-1.075000	0.01584	0.001000	0.13787	0.006000	0.19429	0.471000	0.28363	0.0:0.4702:0.5298:0.0	13.211	0.59251	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	.	.	.	.	.	.	.	.	0.05	1170.43	33	chr19	6684412	.	G	T	1170.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.83;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=1.17;SOR=0.632	GT:AD:DP:GQ:PL	0/1:50,42:92:99:1182,0,1361	9	0	1	0
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00631720991641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0061	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	8.002e-05	2.812e-05	0	0.0004	0.0003	0.0003	6.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.125	0.11769	-0.9982	0.30423	T	0.035	0.15291	T	6	0.06605524	0.09003	T	0.006317	0.16610	T	.	.	.	.	0.0401082797425	0.02173	0.04024571050867364	0.03970	.	.	0.37946036458	0.22180	T	0.013956	0.11972	T	-0.255113	0.13478	T	-0.604228	0.12458	T	0.0270435322631717	0.01550	T	0.30037	0.05618	T	0.023964053	0.01182	0.025669742	0.00620	0.023964053	0.01182	0.025669742	0.00619	-5.088	0.37780	T	.	.	0.367	0.57658	A	.	.	1.113604	0.14988	11.50	0.53643305433940836	0.04980	0.10200	0.15772	N	ALL	.	.	.	-0.794969245513708	0.13441	0.6621338	-0.886495899590302	0.12413	0.638379	0.999999999661444	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	0.534	0.16320	0.450000	0.21475	0.712000	0.20944	0.606000	0.46413	0.025000	0.20085	0.000000	0.08366	0.014000	0.10232	0.353:0.0:0.647:0.0	5.982	0.18645	917	0.20147	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.125	233.11	92	chr19	7871678	.	G	C	233.11	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-3.979;DP=756;ExcessHet=0.2348;FS=265.489;InbreedingCoeff=-0.2145;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=0.776;SOR=8.838	GT:AD:DP:GQ:PL	0/1:58,18:80:89:89,0,1240	6	0	2	2
chr19	7900767	7900767	C	T	exonic	LRRC8E	.	nonsynonymous SNV	LRRC8E:NM_001268285:exon2:c.C1858T:p.R620C,LRRC8E:NM_025061:exon3:c.C2245T:p.R749C,LRRC8E:NM_001268284:exon4:c.C2245T:p.R749C	.	.	.	.	.	.	.	.	.	.	.	2697032	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.066	0.00730594665891	.	.	1.719e-05	0	8.735e-05	0	0	1.563e-05	0	0	2.59e-05	4	154602	rs766935308	3.84e-05	3.831e-05	3.546e-05	4.138e-05	0.0005	3.033e-05	2.726e-05	0.0003	0.0003	2.995e-05	0.0005	0	0	0	0.0002	1.892e-05	0.0001	5.807e-05	7.883e-05	7.88e-05	8.99e-05	6.724e-05	0.0007	4.496e-05	3.511e-05	0.0004	0.0003	2.411e-05	0	0.0007	0	0	0	0	0	0.0005	0	0.08	0.33585	T	0.252	0.23570	T	0.023	0.18885	B	0.003	0.08700	B	0.013584	0.28793	N	0.355460	0.998739	0.45356	D	1.56	0.39490	L	1.8	0.25344	T	-2.1	0.47852	N	0.395	0.43610	-1.0858	0.06263	T	0.036	0.15509	T	10	0.09487566	0.16904	T	0.007306	0.19388	T	0.066	0.19193	.	.	0.449956787536	0.44615	0.5403833382270999	0.53963	0.613671870099	0.55921	0.517971634865	0.41340	T	0.004997	0.04428	T	-0.412473	0.01914	T	-0.51411	0.20893	T	0.0526075572583939	0.05951	T	0.953705	0.82322	D	0.11459764	0.27052	0.052502625	0.08661	0.11459764	0.27052	0.052502625	0.08660	-7.029	0.54245	T	.	.	0.171	0.38117	B	.;.	.;.	3.211824	0.43726	21.8	0.99872480205851388	0.94989	0.31245	0.24289	N	AEFDGBCI	0.242272	0.36375	N	-0.390096714530565	0.25820	1.404532	-0.24989531169729	0.29774	1.670941	0.999995988815996	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.35	4.35	0.51454	1.045000	0.29951	4.015000	0.41197	0.549000	0.26987	0.407000	0.26226	1.000000	0.68203	0.886000	0.42526	0.2089:0.7911:0.0:0.0	9.595	0.38735	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	.	.	.	.	.	.	.	.	0.05	935.43	46	chr19	7900767	.	C	T	935.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.28;DP=430;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.221;SOR=0.71	GT:AD:DP:GQ:PL	0/1:37,42:79:99:947,0,847	9	0	1	0
chr19	8888745	8888745	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40754T:p.T13585I	.	393	977	1	2	149	154	0.00255232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00806063036646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75266616	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.066e-05	0.0052	9.833e-05	6.207e-05	0.0003	3.961e-05	2.899e-05	3.435e-05	1.476e-05	0.0001	0	0.0002	0	0.0003	0.0001	0	2.348e-05	0	0	0.007	0.59928	D	0.117	0.36365	T	.	.	.	.	.	.	.	.	.	.	0.999919	0.19599	N	.	.	.	2.21	0.18414	T	-1.31	0.32791	N	0.284	0.32148	-1.0288	0.20843	T	0.047	0.19958	T	8	0.19550985	0.35406	T	0.008061	0.21368	T	0.147	0.38986	.	.	0.15556083564	0.15200	0.2225390080387863	0.22168	.	.	0.375644803047	0.21638	T	.	.	.	-0.16957	0.25299	T	-0.481352	0.24304	T	0.344821783264657	0.26815	T	0.0674933	0.00492	T	.	.	.	.	.	.	.	.	-7.428	0.57102	T	.	.	0.116	0.23360	B	.	.	1.705751	0.21725	15.32	0.9981530341282232	0.89885	0.47447	0.27985	N	AEFBI	0.095609	0.19314	N	-0.156012332511241	0.34978	2.00343	-0.1738091635021	0.32503	1.849856	1.14764749978257E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.25	0.20475	-0.043000	0.11996	.	.	-0.132000	0.13132	0.926000	0.32145	0.000000	0.08366	0.009000	0.08673	0.1321:0.2319:0.6359:0.0	4.503	0.11285	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.125	1805.06	363	chr19	8888745	.	G	A	1805.06	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-0.46;DP=4623;ExcessHet=0.7463;FS=1.775;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.125;MQ=56.82;MQRankSum=-12.22;QD=1.23;ReadPosRankSum=-3.94;SOR=0.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:430,34:473:81:.:.:81,0,18288:.	6	0	2	2
chr19	8888746	8888746	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40753C:p.T13585P	.	389	1129	2	2	0	6	0.00265018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0120267409717	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796543936	6.848e-07	0.0002	1.363e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	8.155e-05	0.0054	7.944e-05	8.377e-05	0.0003	3.999e-05	2.926e-05	3.581e-05	1.462e-05	7.564e-05	0	0.0002	0	0.0003	0.0001	0	4.466e-05	0	0	0.003	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	0.999901	0.19694	N	.	.	.	1.83	0.24841	T	-1.47	0.35991	N	0.343	0.38438	-0.9752	0.36082	T	0.078	0.31224	T	8	0.23827633	0.40944	T	0.012027	0.30231	T	0.243	0.54921	.	.	0.183819452728	0.17975	0.3716080186309978	0.37074	.	.	0.330018043518	0.14937	T	.	.	.	-0.0267869	0.47882	T	-0.276254	0.47187	T	0.55762339756057	0.34765	D	0.381362	0.09225	T	.	.	.	.	.	.	.	.	-9.731	0.72285	D	.	.	0.197	0.41903	B	.	.	1.973733	0.25071	16.63	0.99543563627523812	0.70648	0.56973	0.30255	D	AEFBI	0.258310	0.37687	N	0.00527281236618241	0.42094	2.529898	-0.0874775071530277	0.35907	2.083018	1.07242915990077E-5	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.26	0.20534	0.979000	0.29098	.	.	0.639000	0.52094	0.948000	0.32982	0.000000	0.08366	0.008000	0.08271	0.2207:0.1276:0.0:0.6517	2.783	0.05037	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1111	185.37	363	chr19	8888746	.	T	G	185.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=1.19;DP=4612;ExcessHet=0.2348;FS=1.108;InbreedingCoeff=-0.1429;MLEAC=2;MLEAF=0.111;MQ=56.67;MQRankSum=-9.603;QD=0.2;ReadPosRankSum=-4.817;SOR=0.975	GT:AD:DP:GQ:PL	0/1:444,34:478:80:80,0,18501	7	0	2	1
chr19	8892957	8892957	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon49:c.A40007G:p.Y13336C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0152631141602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	0	5.502e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	1.657e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.59	0.53943	T	-3.74	0.71042	D	0.34	0.38129	-0.5802	0.65609	T	0.261	0.63154	T	8	0.23707598	0.40801	T	0.015263	0.35889	T	0.117	0.32689	.	.	0.238096912614	0.23440	0.45698288257662006	0.45616	.	.	0.592661857605	0.51870	T	.	.	.	-0.248269	0.14311	T	-0.41287	0.31894	T	0.778244018554688	0.44941	D	0.851715	0.53598	D	.	.	.	.	.	.	.	.	-10.003	0.73930	D	.	.	0.198	0.42052	B	.	.	0.532885	0.09013	5.798	0.97907316584701476	0.36787	0.03572	0.08784	N	AEFDBI	0.035424	0.04558	N	-0.328040160153745	0.28086	1.546307	-0.624120027502041	0.18874	1.010208	9.73656288565854E-5	0.04910	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.07	0.609	0.16752	-1.084000	0.03503	.	.	-0.332000	0.05765	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4493:0.0:0.0:0.5507	5.659	0.16934	952	0.10565	SEA domain|SEA 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	.	.	.	.	.	.	.	.	0.05	2351.43	41	chr19	8892957	.	T	C	2351.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.683;DP=877;ExcessHet=0;FS=0.713;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.57;ReadPosRankSum=-1.643;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,62:109:99:0|1:8892942_C_T:2363,0,1760:8892942	9	0	1	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	.	.	.	.	.	.	.	.	0.35	1508.95	40	chr19	8900017	.	C	G	1508.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.689;DP=2342;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.88;MQRankSum=-15.15;QD=0.85;ReadPosRankSum=1.45;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,22:275:99:0|1:8900009_C_T:162,0,10557:8900009	3	0	7	0
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	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	.	.	.	.	.	.	.	.	0.2778	880.23	222	chr19	8908637	.	C	G	880.23	.	AC=5;AF=0.278;AN=18;BaseQRankSum=2.15;DP=1758;ExcessHet=2.8389;FS=21.496;InbreedingCoeff=-0.3793;MLEAC=5;MLEAF=0.278;MQ=58.66;MQRankSum=-8.787;QD=0.95;ReadPosRankSum=0.427;SOR=3.3	GT:AD:DP:GQ:PL	0/1:181,14:195:43:43,0,7516	4	0	5	1
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	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	.	.	.	.	.	.	.	.	0.2778	871.27	217	chr19	8908644	.	C	G	871.27	.	AC=5;AF=0.278;AN=18;BaseQRankSum=2.73;DP=1791;ExcessHet=2.8389;FS=21.084;InbreedingCoeff=-0.3802;MLEAC=5;MLEAF=0.278;MQ=58.43;MQRankSum=-8.048;QD=0.95;ReadPosRankSum=0.948;SOR=3.012	GT:AD:DP:GQ:PL	0/1:178,14:192:52:52,0,7311	4	0	5	1
chr19	9093854	9093854	G	A	exonic	OR1M1	.	nonsynonymous SNV	OR1M1:NM_001004456:exon1:c.G610A:p.G204R	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.00622908793777	.	.	0.0002	0	0	0	0.0002	0.0002	0.0011	0.0002	0.0001552	24	154602	rs199800381	0.0001	0.0001	0.0001	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	5.974e-05	2.236e-05	0.0026	0	1.875e-05	0.0003	8.723e-05	0.0003	0.0002	0.0001	0.0001	0.0001	8.07e-05	0.0002	6.511e-05	5.322e-05	1.972e-05	1.124e-05	2.412e-05	0	6.549e-05	0.0026	0	0	0	5.879e-05	0	0.0002	0.012	0.54683	D	0.032	0.53426	D	1.0	0.90584	D	0.99	0.78936	D	0.000769	0.41888	D	0.106084	1	0.08975	N	2.575	0.75298	M	1.14	0.38397	T	-4.85	0.81107	D	0.144	0.14480	-0.9186	0.45743	T	0.193	0.54535	T	10	0.054546326	0.05823	T	0.006229	0.16347	T	0.228	0.52768	0.828	0.93851	0.413503789086	0.40968	0.41813801677769197	0.41729	0.19754653574	0.22128	0.21161210537	0.00881	T	0.022994	0.17632	T	-0.312938	0.07491	T	-0.412991	0.31879	T	0.232299303024359	0.22060	T	0.20418	0.02377	T	0.33885804	0.56189	0.23945656	0.49295	0.33885804	0.56189	0.23945656	0.49294	-9.254	0.69318	D	.	.	0.617	0.69583	P	.;.	.;.	1.996753	0.25370	16.74	0.99351054911950598	0.60574	0.00996	0.03776	N	AEFBI	0.031637	0.03423	N	-0.228864113813338	0.31953	1.797015	-0.549841391674191	0.20810	1.122921	1.78817032685594E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.8	0.329	0.15164	-3.280000	0.00585	.	.	0.663000	0.56723	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.2075:0.1754:0.4372:0.1798	1.146	0.01666	970	0.06235	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.05	4331.43	37	chr19	9093854	.	G	A	4331.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.78;DP=648;ExcessHet=0;FS=2.536;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=2.54;SOR=0.864	GT:AD:DP:GQ:PL	0/1:141,157:298:99:4343,0,3616	9	0	1	0
chr19	9186245	9186245	C	T	exonic	OR7D2	.	nonsynonymous SNV	OR7D2:NM_175883:exon1:c.C464T:p.T155I	.	.	.	.	.	.	.	.	.	.	.	3570790	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.007	0.000639121609213	.	.	1.648e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs746042979	9.577e-06	9.577e-06	1.225e-05	6.875e-06	0.0004	5.56e-06	4.35e-06	0.0002	0.0002	0	0	0	0.0004	0	0	0	0	0	6.57e-06	6.563e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.374	0.11406	T	0.384	0.15794	T	0.0	0.02946	B	0.004	0.10090	B	0.781946	0.09464	N	0.851711	1	0.08975	N	-0.075	0.04822	N	1.35	0.34648	T	-1.2	0.30555	N	0.079	0.05414	-1.0414	0.16890	T	0.033	0.13986	T	10	0.035771668	0.01842	T	6.39E-4	0.00334	T	0.007	0.00512	0.357	0.35897	0.192905019026	0.18896	.	.	0.0724221476597	0.08119	0.245019584894	0.03261	T	0.032862	0.22669	T	-0.585499	0.00178	T	-0.778482	0.02500	T	0.0222593999542051	0.00939	T	0.0821918	0.00603	T	0.06542294	0.13980	0.054926995	0.09540	0.06542294	0.13979	0.054926995	0.09539	-3.426	0.15408	T	.	.	0.09	0.12607	B	.;.;.	.;.;.	0.070835	0.04792	1.404	0.14059084153967302	0.00297	0.01220	0.04328	N	AEFBI	0.027082	0.02148	N	-1.61701867512621	0.01182	0.05138053	-1.7094324417471	0.01096	0.04924888	7.89036249435932E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	2.21	-4.43	0.03319	-3.478000	0.00509	.	.	-0.286000	0.06345	0.000000	0.06391	.	.	0.001000	0.02609	0.3925:0.2796:0.0:0.3278	3.545	0.07379	976	0.04745	GPCR, rhodopsin-like, 7TM;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	.	.	.	.	.	.	.	.	0.05	146.43	109	chr19	9186245	.	C	T	146.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-6.041;DP=815;ExcessHet=0;FS=114.924;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.94;ReadPosRankSum=2.89;SOR=6.735	GT:AD:DP:GQ:PL	0/1:127,28:155:99:158,0,2998	9	0	1	0
chr19	9757825	9757825	C	T	exonic	ZNF846	.	nonsynonymous SNV	ZNF846:NM_001353798:exon5:c.G865A:p.G289R,ZNF846:NM_001077624:exon6:c.G1252A:p.G418R,ZNF846:NM_001353799:exon6:c.G1249A:p.G417R	.	377	1128	16	1	0	18	0.00791557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.0025198218614	0.0007	0.000998403	0.0008	0.0003	0.0004	0.0001	0	0.0009	0.0022	0.0018	0.000815	126	154602	rs78118057	0.0007	0.0007	0.0006	0.0008	0.0057	0.0007	0.0007	0.0042	0.0037	0.0001	0.0010	0	5.039e-05	1.872e-05	0.0057	0.0007	0.0012	0.0021	0.0010	0.0010	0.0010	0.0009	0.0035	0.0008	0.0008	0.0028	0.0025	0.0001	0	0.0035	0	0	0	0.0102	0.0009	0.0043	0.0027	0.018	0.50676	D	0.01	0.65728	D	0.998	0.73220	D	0.861	0.61279	P	.	.	.	.	1	0.81001	D	1.985	0.53793	M	4.72	0.01636	T	-7.56	0.95216	D	0.188	0.20528	-0.9866	0.33445	T	0.010	0.03492	T	8	0.016305774	0.00343	T	0.00252	0.05037	T	0.092	0.26621	0.402	0.43245	0.156986980423	0.15292	0.012246333069599663	0.01183	0.0754831300525	0.08464	0.358091592789	0.19107	T	0.076781	0.35499	T	-0.455752	0.01044	T	-0.457511	0.26870	T	0.109626964581686	0.13384	T	0.605039	0.22725	T	0.37053517	0.58624	0.38306525	0.63279	0.37053517	0.58625	0.38306525	0.63278	-8.044	0.61370	D	.	.	0.602	0.68946	P	.	.	2.732761	0.35776	19.99	0.99696630778219697	0.80316	0.00271	0.01473	N	AEFDBHCI	0.142696	0.26521	N	-0.272408540502247	0.30217	1.682853	-0.527505241717213	0.21408	1.157922	0.0131411454864635	0.12423	0.460665	0.09802	0	0.486142	0.07564	0	0.575934	0.27490	0	0.567892	0.33627	0	.	.	2.01	-0.196	0.12582	1.792000	0.38387	.	.	0.493000	0.22426	0.178000	0.24038	0.000000	0.08366	0.893000	0.43066	0.0:0.6966:0.0:0.3034	5.979	0.18627	906	0.23090	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	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.05	1142.43	33	chr19	9757825	.	C	T	1142.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.993;DP=392;ExcessHet=0;FS=5.123;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.58;ReadPosRankSum=-0.742;SOR=1.254	GT:AD:DP:GQ:PL	0/1:25,40:65:99:1154,0,772	9	0	1	0
chr19	10359252	10359252	G	A	exonic	TYK2	.	nonsynonymous SNV	TYK2:NM_001385199:exon14:c.C1912T:p.R638W,TYK2:NM_001385201:exon14:c.C1900T:p.R634W,TYK2:NM_001385197:exon15:c.C2098T:p.R700W,TYK2:NM_001385198:exon15:c.C2098T:p.R700W,TYK2:NM_001385200:exon15:c.C2098T:p.R700W,TYK2:NM_001385203:exon15:c.C2098T:p.R700W,TYK2:NM_001385204:exon15:c.C2098T:p.R700W,TYK2:NM_001385205:exon15:c.C2008T:p.R670W,TYK2:NM_001385206:exon15:c.C1972T:p.R658W,TYK2:NM_001385207:exon15:c.C2080T:p.R694W,TYK2:NM_003331:exon15:c.C2098T:p.R700W,TYK2:NM_001385202:exon16:c.C2014T:p.R672W	Immunodeficiency 35, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638	0.688951514796	.	.	3.527e-05	0	0	0.0004	0.0002	0	0	0	2.59e-05	4	154602	rs766131781	4.18e-05	4.446e-05	5.455e-05	2.893e-05	0.0005	3.316e-05	3.006e-05	0.0003	0.0003	5.974e-05	0	0	0.0005	1.96e-05	0.0002	3.148e-05	3.313e-05	1.16e-05	2.629e-05	2.626e-05	2.57e-05	2.69e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.989	0.79672	D	0.004791	0.33389	N	0.127944	0.999918	0.58761	D	2.765	0.80766	M	-1.87	0.84415	D	-4.95	0.81910	D	0.734	0.73916	0.700	0.93175	D	0.770	0.92167	D	10	0.8909832	0.88440	D	0.688952	0.97436	D	0.638	0.86181	0.675	0.81299	0.866428657405	0.86512	0.6404422011368099	0.63979	0.956637058499	0.72843	0.452429115772	0.32276	T	0.629162	0.89423	D	-0.117035	0.33611	T	-0.0428557	0.67508	D	0.588689438836838	0.35955	D	0.955004	0.88094	D	0.56761074	0.70929	0.48864645	0.70411	0.56761074	0.70930	0.48864645	0.70411	-12.718	0.88168	D	.	.	0.135	0.41873	B	.;.;.;.	.;.;.;.	4.755712	0.76843	26.6	0.99925941479507341	0.99042	0.98409	0.82480	D	AEFDBI	0.703701	0.65965	D	0.655337625050763	0.76717	6.537889	0.560642212316703	0.72141	5.763255	0.999942527502328	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.0	5.0	0.66209	2.536000	0.45351	8.435000	0.77180	0.639000	0.52094	0.892000	0.31242	1.000000	0.68203	0.043000	0.14563	0.0:0.0:1.0:0.0	15.825	0.78473	769	0.49307	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;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1166.43	33	chr19	10359252	.	G	A	1166.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.004;DP=412;ExcessHet=0;FS=9.358;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.514;SOR=0.852	GT:AD:DP:GQ:PL	0/1:54,50:104:99:1178,0,1253	9	0	1	0
chr19	11507562	11507700	CCTACTCCAAGGTGGGGAGTGCAGGCGGGGTCAGAGGCCAGGGCTCTCTCGGTCTCCCTCCTCCAGCCTCTCCCATGCACCCTCAGGGTAGTGCCAGCCCACTCCCCAGCCCCAACACATGCTTTGCTTTAAGCCCTCA	-	exonic	ECSIT	.	frameshift deletion	ECSIT:NM_001142465:exon5:c.304delG:p.E102Kfs*22,ECSIT:NM_001142464:exon6:c.797delG:p.G266Efs*117,ECSIT:NM_001243204:exon7:c.825delG:p.K276Sfs*31,ECSIT:NM_016581:exon7:c.946delG:p.E316Kfs*22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	6.84e-06	1.361e-06	4.126e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1157.39	40	chr19	11507561	.	TCCTACTCCAAGGTGGGGAGTGCAGGCGGGGTCAGAGGCCAGGGCTCTCTCGGTCTCCCTCCTCCAGCCTCTCCCATGCACCCTCAGGGTAGTGCCAGCCCACTCCCCAGCCCCAACACATGCTTTGCTTTAAGCCCTCA	T	1157.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.49;DP=681;ExcessHet=0;FS=2.965;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.16;ReadPosRankSum=-2.409;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:298,68:366:99:0|1:11507561_TCCTACTCCAAGGTGGGGAGTGCAGGCGGGGTCAGAGGCCAGGGCTCTCTCGGTCTCCCTCCTCCAGCCTCTCCCATGCACCCTCAGGGTAGTGCCAGCCCACTCCCCAGCCCCAACACATGCTTTGCTTTAAGCCCTCA_T:1169,0,12285:11507561	9	0	1	0
chr19	11507850	11507989	CCTGGTGTGGAGACATACATGCCCTGTGCCCTGCAAGGGACTCGGCCCAGAGGCCCAGGGAGCCCAGCCTAGGCCCAGCGAGAACCTGGCAGGGCCTGGGTAAGGTTAGAGACTTGGCTGCCCCCATGCTCTCGGACTTA	-	exonic	ECSIT	.	frameshift deletion	ECSIT:NM_001142465:exon4:c.155delG:p.G52Efs*72,ECSIT:NM_016581:exon6:c.797delG:p.G266Efs*72	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	7.524e-06	1.362e-06	1.376e-06	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	50.39	40	chr19	11507849	.	TCCTGGTGTGGAGACATACATGCCCTGTGCCCTGCAAGGGACTCGGCCCAGAGGCCCAGGGAGCCCAGCCTAGGCCCAGCGAGAACCTGGCAGGGCCTGGGTAAGGTTAGAGACTTGGCTGCCCCCATGCTCTCGGACTTA	T	50.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.28;DP=605;ExcessHet=0;FS=1.588;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.2;ReadPosRankSum=-1.49;SOR=0.885	GT:AD:DP:GQ:PL	0/1:225,29:254:62:62,0,9326	9	0	1	0
chr19	12015504	12015504	A	G	exonic	ZNF433	.	nonsynonymous SNV	ZNF433:NM_001080411:exon4:c.T1363C:p.C455R,ZNF433:NM_001308348:exon4:c.T1354C:p.C452R,ZNF433:NM_001308346:exon5:c.T1360C:p.C454R,ZNF433:NM_001308355:exon5:c.T1258C:p.C420R,ZNF433:NM_001308357:exon5:c.T1258C:p.C420R,ZNF433:NM_001308351:exon6:c.T1258C:p.C420R	.	.	.	.	.	.	.	.	.	.	.	3634896	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.346	0.00502484625534	.	.	8.277e-06	0	0	0	0	0	0.0011	0	1.29e-05	2	154602	rs776039130	3.078e-05	3.078e-05	2.859e-05	3.3e-05	0.0007	2.347e-05	2.095e-05	0.0002	0.0001	0	4.472e-05	0	0	0	0.0007	3.058e-05	6.623e-05	1.159e-05	2.635e-05	2.629e-05	2.574e-05	2.698e-05	0.0001	8.16e-06	5.15e-06	2.266e-05	9.09e-06	0	0	0.0001	0	0	0	0	2.942e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	0.999996	0.58761	D	3.72	0.94773	H	-2.05	0.85799	D	-11.41	0.99431	D	0.452	0.49511	0.614	0.92087	D	0.815	0.93751	D	9	0.70023286	0.72397	D	0.005025	0.12690	T	0.346	0.66769	0.641	0.77795	0.909186868059	0.90827	0.0717668096751873	0.07113	0.34301483754	0.36231	0.559039235115	0.47132	T	0.566547	0.85578	D	0.0451849	0.57722	T	-0.0900062	0.64160	T	0.99540376663208	0.87363	D	0.518148	0.16784	T	0.837258	0.86413	0.7794095	0.86993	0.837258	0.86414	0.7794095	0.86994	-8.705	0.69997	D	.	.	0.567	0.67488	P	.;.	.;.	2.991824	0.39941	21.1	0.99546446332219718	0.70836	0.39001	0.26114	N	AEFBHCI	0.424979	0.48993	N	0.379331126998933	0.60303	4.217819	0.0866898294093438	0.43876	2.680502	0.998239619263761	0.36618	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	1.18	1.18	0.20058	4.379000	0.59342	.	.	0.575000	0.29119	0.988000	0.36536	0.002000	0.18203	0.023000	0.12082	1.0:0.0:0.0:0.0	7.857	0.28647	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2096.43	34	chr19	12015504	.	A	G	2096.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.544;DP=465;ExcessHet=0;FS=1.968;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.692;SOR=0.892	GT:AD:DP:GQ:PL	0/1:74,89:163:99:2108,0,1923	9	0	1	0
chr19	13819456	13819456	C	T	exonic	ZSWIM4	.	nonsynonymous SNV	ZSWIM4:NM_023072:exon9:c.C1673T:p.P558L,ZSWIM4:NM_001367834:exon10:c.C2024T:p.P675L	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	.	0.0052	0.00119808	0.0062	0.0010	0.0022	0.0002	0.0033	0.0102	0.0035	0.0007	0.0044954	695	154602	rs80004758	0.0059	0.0059	0.0061	0.0058	0.0070	0.0058	0.0058	0.0068	0.0068	0.0009	0.0024	0.0086	7.605e-05	0.0038	0.0049	0.0070	0.0045	0.0006	0.0041	0.0041	0.0040	0.0043	0.0069	0.0039	0.0038	0.0064	0.0061	0.0010	0	0.0033	0.0078	0	0.0032	0.0034	0.0069	0.0019	0.0008	0.036	0.43393	D	0.066	0.53788	T	0.56	0.38344	P	0.145	0.33871	B	0.038186	0.24313	N	0.278603	0.999946	0.51968	D	1.67	0.42885	L	0.95	0.43279	T	-4.61	0.79060	D	0.524	0.55366	-1.0415	0.16860	T	0.061	0.25492	T	10	0.008598864	0.00195	T	.	.	.	0.173	0.43840	.	.	0.432379865206	0.42856	0.5226925853693279	0.52192	0.61309136302	0.55890	0.593764662743	0.52025	T	0.212548	0.57363	T	-0.478577	0.00754	T	-0.455794	0.27058	T	0.0684627819465921	0.08434	T	0.980402	0.93314	D	0.13601625	0.31547	0.17891277	0.40592	0.13601625	0.31547	0.17891277	0.40591	-8.772	0.66217	D	.	.	0.115	0.24967	B	.;.	.;.	4.429057	0.68660	25.3	0.99744684289133723	0.83778	0.95780	0.66122	D	AEFDBI	0.766473	0.70264	D	0.192736198623042	0.50850	3.271183	0.237823797273816	0.51958	3.374195	0.999999735615527	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.87	3.87	0.43823	7.578000	0.81790	5.791000	0.49870	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:1.0:0.0:0.0	13.410	0.60383	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	0.005051	0.000000	0.005435	0.002924	0.000000	0.000000	0.012270	0.003788	0.05	884.43	37	chr19	13819456	.	C	T	884.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.92;DP=391;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.391;SOR=0.728	GT:AD:DP:GQ:PL	0/1:43,37:80:99:896,0,984	9	0	1	0
chr19	13890276	13890276	G	T	exonic	C19orf57	.	nonsynonymous SNV	C19orf57:NM_001345846:exon5:c.C226A:p.P76T,C19orf57:NM_001345847:exon5:c.C226A:p.P76T,C19orf57:NM_001345843:exon6:c.C997A:p.P333T,C19orf57:NM_001345844:exon6:c.C997A:p.P333T,C19orf57:NM_024323:exon6:c.C580A:p.P194T	.	432	1066	22	2	0	26	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00222259260129	0.0025	0.00299521	0.0031	0.0004	0.0039	0	0.0006	0.0043	0	0.0024	0.0030401	470	154602	rs148701997	0.0037	0.0037	0.0037	0.0038	0.0068	0.0037	0.0036	0.0051	0.0045	0.0006	0.0046	0.0035	0	0.0003	0.0068	0.0042	0.0040	0.0022	0.0026	0.0026	0.0029	0.0022	0.0041	0.0024	0.0023	0.0037	0.0035	0.0007	0.0033	0.0035	0.0009	0.0002	9.411e-05	0.0034	0.0041	0.0047	0.0023	1.0	0.00964	T	1.0	0.01155	T	0.571	0.38591	P	0.118	0.32088	B	0.149035	0.02947	N	1.964930	1	0.08975	N	1.245	0.31408	L	1.54	0.30133	T	-0.22	0.10480	N	0.03	0.01911	-1.0669	0.10108	T	0.027	0.11663	T	10	0.005736828	0.00128	T	0.002223	0.04206	T	0.029	0.06676	.	.	0.0954503805726	0.09146	0.050621165920226106	0.05005	0.492064510921	0.47869	.	.	.	0.002431	0.01826	T	-0.679696	0.00048	T	-0.748159	0.03558	T	0.00320091885852061	0.00034	T	0.519848	0.16911	T	0.025641004	0.01525	0.037875064	0.03534	0.025641004	0.01524	0.037875064	0.03533	-3.629	0.18277	T	.	.	0.064	0.01810	B	.;.	.;.	0.306323	0.06816	3.341	0.41223039643330117	0.02960	0.01139	0.04132	N	AEFBI	0.039699	0.05802	N	-1.07992004097226	0.07014	0.3245773	-1.17551119598222	0.06320	0.3038937	0.00464940957536661	0.10654	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	3.34	-0.589	0.11097	-0.679000	0.05304	0.393000	0.17912	-0.272000	0.06708	0.000000	0.06391	0.053000	0.21875	0.040000	0.14268	0.5637:0.0:0.4363:0.0	6.327	0.20455	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	0.005539	0.000000	0.005435	0.000000	0.000000	0.000000	0.018293	0.007576	0.05	1740.43	37	chr19	13890276	.	G	T	1740.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.474;DP=494;ExcessHet=0;FS=2.774;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.21;SOR=0.921	GT:AD:DP:GQ:PL	0/1:96,69:165:99:1752,0,2550	9	0	1	0
chr19	13934294	13934294	G	A	exonic	PODNL1	.	nonsynonymous SNV	PODNL1:NM_001146254:exon6:c.C626T:p.P209L,PODNL1:NM_001370095:exon6:c.C632T:p.P211L,PODNL1:NM_024825:exon6:c.C611T:p.P204L	.	423	1090	9	0	0	9	0.00411147	.	.	.	3463898	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.301	0.0408230760106	.	.	8.16e-05	0.0002	0	0	0	0	0.004	0.0006	2.59e-05	4	154602	rs777679884	1.661e-05	1.915e-05	1.136e-05	2.204e-05	0.0001	1.106e-05	9.24e-06	8.264e-05	6.414e-05	0	0	0	0	0	0	1.115e-05	0	0.0001	3.285e-05	3.283e-05	2.569e-05	4.035e-05	7.239e-05	1.261e-05	7.98e-06	1.92e-05	1.032e-05	7.239e-05	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.012	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000391	0.44960	D	0.000000	0.999914	0.81001	D	3.19	0.88972	M	1.9	0.32238	T	-7.27	0.95455	D	0.468	0.53445	-0.2197	0.77159	T	0.294	0.66602	T	10	0.64301467	0.69166	D	0.040823	0.59591	D	0.301	0.62179	0.359	0.36222	0.515715180578	0.51213	0.5058954073958112	0.50511	0.835004575118	0.67782	0.610998153687	0.54457	T	0.129637	0.45804	T	-0.187087	0.22688	T	-0.199098	0.54732	T	0.983963668346405	0.75439	D	0.876112	0.59977	D	0.78351694	0.82870	0.81243515	0.89055	0.78351694	0.82872	0.81243515	0.89056	-13.792	0.92536	D	.	.	0.292	0.56091	B	.;.;.;.;.	.;.;.;.;.	5.033582	0.83731	28.1	0.99906746876083963	0.97726	0.95236	0.63943	D	AEFDBHCI	0.869602	0.79021	D	0.890537474875987	0.91288	10.80841	0.781644438141896	0.88487	9.601435	0.999999988990375	0.74766	0.403107	0.06075	0	0.514364	0.08380	0	0.298653	0.05632	1	0.562822	0.20929	0	.	.	5.35	5.35	0.76297	4.237000	0.58477	11.500000	0.92961	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.486000	0.28701	0.0:0.0:1.0:0.0	15.954	0.79650	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	0.001038	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.05	874.43	36	chr19	13934294	.	G	A	874.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.021;DP=420;ExcessHet=0;FS=2.721;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=-1.226;SOR=0.861	GT:AD:DP:GQ:PL	0/1:56,38:94:99:886,0,1418	9	0	1	0
chr19	17286680	17286680	G	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	310.58	58	chr19	17286680	.	G	*	310.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.28;DP=532;ExcessHet=0.2348;FS=8.115;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.61;ReadPosRankSum=4;SOR=0.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,20:47:99:1|0:17286678_GTGTGTGTGTGTGTT_G:738,0,864:17286678	9	0	1	0
chr19	17286682	17286692	GTGTGTGTGTT	0	exonic	ANKLE1	.	.	.	.	535	734	32	0	221	253	0.0213333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	580.72	58	chr19	17286682	.	GTGTGTGTGTT	*	580.72	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.02;DP=537;ExcessHet=0.7463;FS=3.854;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=3.97;SOR=0.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,20:47:99:1|0:17286678_GTGTGTGTGTGTGTT_G:738,0,864:17286678	9	0	1	0
chr19	17286684	17286692	GTGTGTGTT	0	exonic	ANKLE1	.	.	.	.	522	639	135	2	224	363	0.0980946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	141.87	58	chr19	17286684	.	GTGTGTGTT	*	141.87	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.893;DP=543;ExcessHet=1.5895;FS=10.81;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.97;ReadPosRankSum=1.96;SOR=0.233	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,20:47:99:1|0:17286678_GTGTGTGTGTGTGTT_G:738,0,864:17286678	7	0	3	0
chr19	17286686	17286692	GTGTGTT	0	exonic	ANKLE1	.	.	.	.	513	567	132	0	310	442	0.104265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	361.99	58	chr19	17286686	.	GTGTGTT	*	361.99	.	AC=4;AF=0.2;AN=20;DP=541;ExcessHet=0.2065;FS=5.819;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.2;MQ=60;QD=2.46;SOR=0.337	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,20:47:99:1|0:17286678_GTGTGTGTGTGTGTT_G:738,0,864:17286678	6	0	4	0
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	292.77	55	chr19	17286688	.	GTGTT	*	292.77	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.579;DP=553;ExcessHet=2.8549;FS=4.441;InbreedingCoeff=-0.2462;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=1.28;SOR=0.43	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,20:47:99:1|0:17286678_GTGTGTGTGTGTGTT_G:738,0,864:17286678	6	1	3	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1361.57	55	chr19	17286690	.	GTT	*	1361.57	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.542;DP=552;ExcessHet=5.1594;FS=4.31;InbreedingCoeff=-0.4141;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=2;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,20:47:99:1|0:17286678_GTGTGTGTGTGTGTT_G:738,0,864:17286678	6	1	3	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4100.81	50	chr19	17286692	.	T	*	4100.81	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.268;DP=564;ExcessHet=0.2348;FS=4.99;InbreedingCoeff=-0.1111;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.42;SOR=1.13	GT:AD:DP:GQ:PL	0/1:0,22:40:99:1919,911,860	2	1	7	0
chr19	18258063	18258063	C	T	exonic	IQCN	.	nonsynonymous SNV	IQCN:NM_001145304:exon4:c.G3221A:p.R1074H,IQCN:NM_001145305:exon4:c.G2522A:p.R841H,IQCN:NM_025249:exon4:c.G2660A:p.R887H	.	427	1059	34	2	0	38	0.0176252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	.	0.0038	0.00299521	0.0047	0.0012	0.0047	0.0001	0.0002	0.0066	0.0092	0.0034	0.0042884	663	154602	rs141048177	0.0041	0.0041	0.0040	0.0042	0.0265	0.0040	0.0040	0.0231	0.0218	0.0014	0.0049	0.0208	2.519e-05	0.0003	0.0265	0.0040	0.0053	0.0035	0.0036	0.0036	0.0038	0.0033	0.0054	0.0033	0.0032	0.0045	0.0041	0.0010	0	0.0054	0.0216	0	0.0003	0.0374	0.0043	0.0104	0.0037	0.163	0.23450	T	0.095	0.48336	T	0.092	0.25296	B	0.002	0.06944	B	0.157719	0.03014	N	1.971570	1	0.08975	N	.	.	.	3.94	0.03597	T	-0.59	0.17624	N	0.075	0.11626	-0.9618	0.38839	T	0.007	0.02518	T	10	0.0044397414	0.00091	T	.	.	.	0.073	0.21317	.	.	0.0138822411134	0.00435	0.45776120767345174	0.45694	0.222400704968	0.24772	0.377672582865	0.21925	T	0.021313	0.16617	T	-0.62893	0.00097	T	-0.674686	0.07311	T	0.00170340232547441	0.00017	T	0.509649	0.16214	T	0.028322374	0.02152	0.030063309	0.01416	0.028322374	0.02151	0.030063309	0.01415	-5.103	0.40376	T	.	.	0.105	0.19559	B	.;.;.;.	.;.;.;.	1.248499	0.16447	12.55	0.94216204161609229	0.24461	0.05184	0.11004	N	AEFDBCI	0.064026	0.12409	N	-1.13637647039827	0.06007	0.2754035	-1.18334913895505	0.06187	0.2970505	1.35823505308899E-4	0.05486	0.554377	0.28877	0	0.547309	0.14657	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	2.58	1.52	0.22158	0.373000	0.20215	0.117000	0.14863	-0.881000	0.02461	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3029:0.6971:0.0	7.229	0.25209	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	0.027190	0.030303	0.036685	0.055556	0.000000	0.008621	0.015244	0.007576	0.15	4012.43	38	chr19	18258063	.	C	T	4012.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.65;DP=510;ExcessHet=0;FS=4.525;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=22.42;ReadPosRankSum=-0.754;SOR=1.169	GT:AD:DP:GQ:PL	0/1:45,48:93:99:1282,0,1013	8	1	1	0
chr19	19051950	19051950	G	A	exonic	ARMC6	.	nonsynonymous SNV	ARMC6:NM_033415:exon4:c.G533A:p.R178H,ARMC6:NM_001199196:exon5:c.G608A:p.R203H	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0238042463074	7.7e-05	.	8.276e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs373198003	1.915e-05	1.915e-05	1.906e-05	1.925e-05	8.945e-05	1.328e-05	1.144e-05	2.985e-05	1.804e-05	2.987e-05	8.945e-05	0	0	0	0	1.439e-05	3.311e-05	5.797e-05	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.016	0.56456	D	0.09	0.40267	T	0.574	0.38693	P	0.073	0.28123	B	0.000070	0.52346	D	0.173879	0.999428	0.47006	D	2.46	0.71463	M	0.74	0.50459	T	-3.27	0.65512	D	0.742	0.74189	-0.9128	0.46505	T	0.131	0.44088	T	10	0.3983691	0.55390	T	0.023804	0.46785	T	0.247	0.55478	.	.	0.548188646194	0.54475	0.592489090517643	0.59178	0.350567368242	0.36905	0.44028994441	0.30616	T	0.26134	0.63281	T	-0.17367	0.24681	T	-0.305713	0.44118	T	0.739114105701447	0.42690	D	0.89801	0.64352	D	0.19791077	0.41673	0.12217051	0.29471	0.19791077	0.41673	0.12217051	0.29470	-11.064	0.80669	D	.	.	0.168	0.43241	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.965239	0.82122	27.7	0.99675221103255462	0.78846	0.97396	0.74483	D	AEFDGBHCI	0.835163	0.75311	D	0.0553000525415758	0.44388	2.713668	0.0884152427431304	0.43963	2.687439	0.999997936951251	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	7.197000	0.77336	9.571000	0.81011	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.112000	0.18829	0.0:0.0:1.0:0.0	17.717	0.88248	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	.	.	.	.	.	.	.	.	0.05	2089.43	37	chr19	19051950	.	G	A	2089.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.45;DP=495;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.186;SOR=0.662	GT:AD:DP:GQ:PL	0/1:83,77:160:99:2101,0,2084	9	0	1	0
chr19	19268050	19268050	G	A	exonic	TM6SF2	.	nonsynonymous SNV	TM6SF2:NM_001001524:exon7:c.C647T:p.P216L	.	406	1099	17	0	0	17	0.00767494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.596	0.109003907136	0.0002	0.000599042	0.0004	0	0.0012	0	0	0.0005	0.0045	0.0002	0.0003881	60	154602	rs186811910	0.0004	0.0004	0.0004	0.0004	0.0113	0.0003	0.0003	0.0091	0.0083	0.0004	0.0011	0.0008	0	0	0.0113	0.0003	0.0011	0.0003	0.0006	0.0006	0.0006	0.0006	0.0038	0.0005	0.0005	0.0030	0.0027	9.632e-05	0	0.0038	0.0003	0	0	0.0034	0.0003	0.0028	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000240	0.47286	U	0.000000	1	0.81001	D	3.11	0.87757	M	0.75	0.50192	T	-7.98	0.96395	D	0.879	0.87699	-0.4054	0.71857	T	0.248	0.61762	T	10	0.42586207	0.57169	T	0.109004	0.78579	D	0.596	0.83965	.	.	0.356484672536	0.35262	0.6789202065776354	0.67831	0.806251199678	0.66477	0.468622773886	0.34490	T	0.298611	0.67117	T	0.0305121	0.55791	T	0.191791	0.82669	D	0.424041986465454	0.29840	T	0.973803	0.90577	D	0.6937057	0.77712	0.49910516	0.71039	0.6937057	0.77714	0.49910516	0.71040	-10.515	0.76933	D	.	.	0.327	0.55011	B	.	.	4.483275	0.69966	25.5	0.99820414673699931	0.90326	0.98494	0.83372	D	AEFDBI	0.845905	0.76280	D	0.584315029465696	0.72196	5.767704	0.446677935506681	0.64503	4.707086	0.999998193255724	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.74	4.74	0.59717	7.921000	0.86938	.	.	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.058000	0.15825	0.0:0.0:1.0:0.0	15.219	0.72983	794	0.45591	.	.	.	.	.	.	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	0.011078	0.000000	0.012228	0.023392	0.000000	0.025862	0.006098	0.007576	0.05	1200.43	35	chr19	19268050	.	G	A	1200.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=437;ExcessHet=0;FS=0.759;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=1.11;SOR=0.863	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1212,0,1107	9	0	1	0
chr19	19679881	19679881	C	T	exonic	ZNF101	.	nonsynonymous SNV	ZNF101:NM_001300949:exon4:c.C532T:p.H178Y,ZNF101:NM_033204:exon4:c.C892T:p.H298Y	.	431	1056	32	3	0	38	0.0176744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0055	0.00579073	0.0066	0.0014	0.0020	0	0.0017	0.0072	0.0133	0.0159	0.0065846	1018	154602	rs35358946	0.0066	0.0066	0.0062	0.0070	0.0165	0.0065	0.0064	0.0150	0.0147	0.0011	0.0026	0.0054	0	0.0022	0.0165	0.0067	0.0062	0.0157	0.0051	0.0051	0.0050	0.0051	0.0133	0.0048	0.0047	0.0107	0.0097	0.0010	0	0.0058	0.0069	0	0.0015	0.0034	0.0078	0.0033	0.0133	0.002	0.72154	D	0.035	0.52389	D	0.433	0.35643	B	0.105	0.31087	B	.	.	.	.	0.799821	0.34496	D	0.17	0.09006	N	1.66	0.27486	T	-2.15	0.48687	N	0.069	0.04188	-1.0257	0.21853	T	0.018	0.07470	T	8	0.0066495836	0.00151	T	.	.	.	0.055	0.15663	.	.	0.202949470691	0.19918	0.02114780580737193	0.02067	0.313643459158	0.33653	0.245766609907	0.03335	T	0.021994	0.17036	T	-0.656461	0.00066	T	-0.702764	0.05676	T	0.00789343768369429	0.00093	T	0.337566	0.07230	T	0.061647203	0.12789	0.06612032	0.13500	0.061647203	0.12789	0.06612032	0.13499	-4.655	0.38075	T	.	.	0.118	0.24054	B	.;.	.;.	0.849582	0.12215	8.761	0.87621516478624661	0.17360	0.06040	0.12008	N	AEFBCI	0.027750	0.02323	N	-1.11226993416245	0.06423	0.2956533	-1.23360278248095	0.05378	0.2561064	0.00301293587973306	0.09869	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	0.235	0.235	0.14697	-0.876000	0.04309	.	.	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4753:0.5244:1.0E-4:1.0E-4	3.123	0.06012	560	0.71333	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	0.014099	0.010101	0.019022	0.011696	0.000000	0.000000	0.006098	0.022727	0.05	422.43	34	chr19	19679881	.	C	T	422.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.669;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.03;ReadPosRankSum=-1.222;SOR=0.675	GT:AD:DP:GQ:PL	0/1:51,19:70:99:434,0,1387	9	0	1	0
chr19	20806781	20806781	A	G	exonic	ZNF66	.	nonsynonymous SNV	ZNF66:NM_001355197:exon4:c.A1181G:p.K394R	.	412	1104	6	0	0	6	0.00271003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339335260755	.	0.000599042	0.0011	0	9.694e-05	0	0	8.339e-05	0.0023	0.0074	0.0008861	137	154602	rs182710691	0.0006	0.0006	0.0003	0.0009	0.0078	0.0006	0.0006	0.0073	0.0071	0	6.832e-05	0	0	0	0.0025	7.191e-05	0.0006	0.0078	0.0004	0.0004	0.0002	0.0006	0.0081	0.0003	0.0003	0.0061	0.0054	0.0001	0	6.542e-05	0	0	0.0002	0	0.0002	0.0014	0.0081	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.07	0.20387	T	.	.	.	0.098	0.07949	.	.	.	.	.	.	.	0.0064466596	0.00146	T	0.003393	0.07603	T	.	.	.	.	0.530655398971	0.52714	0.001867889343568664	0.00172	.	.	.	.	.	0.011904	0.10552	T	-0.644809	0.00078	T	-0.694013	0.06159	T	.	.	.	0.720328	0.33319	T	0.04003843	0.05641	0.05763141	0.10512	0.04003843	0.05640	0.05763141	0.10511	-6.271	0.48493	T	.	.	0.096	0.15296	B	.	.	1.356420	0.17649	13.29	0.96973816004531155	0.31831	0.03573	0.08786	N	AEFDBHCI	0.063575	0.12293	N	.	.	.	.	.	.	8.405884905278E-5	0.04703	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.564101	0.26826	0	.	.	1.46	0.206	0.14485	1.614000	0.36522	.	.	-0.461000	0.05115	0.017000	0.19353	0.000000	0.08366	0.000000	0.00833	0.7134:0.0:0.0:0.2866	4.542	0.11462	982	0.03397	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	.	.	.	.	.	.	.	.	0.05	1504.43	92	chr19	20806781	.	A	G	1504.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.819;DP=649;ExcessHet=0;FS=3.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=-0.13;SOR=0.593	GT:AD:DP:GQ:PL	0/1:44,59:103:99:1516,0,1074	9	0	1	0
chr19	21383191	21383191	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G645A:p.M215I	.	525	981	16	0	0	16	0.00808898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910428921	1.384e-06	0.0003	0	2.783e-06	2.276e-05	2.3e-07	9e-08	.	.	0	2.276e-05	0	0	0	0	9.092e-07	0	0	0	0.0038	0	0	.	0	0	.	.	0	0	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	.	.	.	.	.	.	.	.	0.15	1141.45	50	chr19	21383191	.	G	A	1141.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.762;DP=611;ExcessHet=0.7463;FS=22.899;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.49;MQRankSum=-8.835;QD=3.29;ReadPosRankSum=-2.09;SOR=1.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,19:132:99:0|1:21383168_A_G:458,0,4688:21383168	7	0	3	0
chr19	21383196	21383196	T	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.T650C:p.L217S	.	531	981	10	0	0	10	0.00507099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380787073	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.719e-06	0.0012	1.31e-05	0	1.497e-05	0	0	.	.	0	0	0	0	0	0	0	1.497e-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	.	.	.	.	.	.	.	.	0.15	682.45	50	chr19	21383196	.	T	C	682.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.86;DP=598;ExcessHet=0.7463;FS=20.497;InbreedingCoeff=-0.1764;MLEAC=3;MLEAF=0.15;MQ=58.72;MQRankSum=-9.572;QD=2.04;ReadPosRankSum=-2.152;SOR=2.062	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,17:130:99:0|1:21383168_A_G:374,0,4694:21383168	7	0	3	0
chr19	21383203	21383203	-	ACTC	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.657_658insACTC:p.G220Tfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434000702	0	5.341e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	0.0004	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	455.23	50	chr19	21383203	.	A	AACTC	455.23	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.81;DP=588;ExcessHet=0.2348;FS=29.19;InbreedingCoeff=-0.1168;MLEAC=2;MLEAF=0.1;MQ=58.89;MQRankSum=-9.611;QD=1.96;ReadPosRankSum=-1.622;SOR=2.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,17:126:99:0|1:21383168_A_G:386,0,4526:21383168	8	0	2	0
chr19	21383206	21383209	TCAA	-	exonic	ZNF738	.	frameshift deletion	ZNF738:NM_001355237:exon5:c.660_663del:p.Q221Ifs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310884774	0	4.382e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.714e-06	0.0004	1.31e-05	0	1.494e-05	0	0	.	.	0	0	0	0	0	0	0	1.494e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	371.89	50	chr19	21383205	.	GTCAA	G	371.89	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.9;DP=592;ExcessHet=0;FS=30.89;InbreedingCoeff=-0.0781;MLEAC=1;MLEAF=0.05;MQ=58.91;MQRankSum=-9.454;QD=2.93;ReadPosRankSum=-1.376;SOR=2.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,17:127:99:0|1:21383168_A_G:383,0,4568:21383168	9	0	1	0
chr19	21383216	21383216	A	G	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.A670G:p.I224V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297183634	6.926e-07	3.424e-05	0	1.391e-06	9.106e-07	0	0	.	.	0	0	0	0	0	0	9.106e-07	0	0	6.679e-06	0.0003	1.304e-05	0	1.49e-05	0	0	.	.	0	0	0	0	0	0	0	1.49e-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	.	.	.	.	.	.	.	.	0.05	152.43	50	chr19	21383216	.	A	G	152.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.77;DP=459;ExcessHet=0;FS=26.477;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.67;MQRankSum=-10.41;QD=1.39;ReadPosRankSum=-1.362;SOR=4.78	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,11:110:99:0|1:21383168_A_G:164,0,4124:21383168	9	0	1	0
chr19	21383222	21383222	C	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.C676A:p.H226N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370539829	0	2.739e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.693e-06	0.0003	1.307e-05	0	1.491e-05	0	0	.	.	0	0	0	0	0	0	0	1.491e-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	.	.	.	.	.	.	.	.	0.05	161.43	50	chr19	21383222	.	C	A	161.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.76;DP=456;ExcessHet=0;FS=25.992;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.63;MQRankSum=-10.27;QD=1.51;ReadPosRankSum=-0.687;SOR=4.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,11:107:99:0|1:21383168_A_G:173,0,3998:21383168	9	0	1	0
chr19	21383228	21383228	A	G	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.A682G:p.R228G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224923620	0	2.466e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.677e-06	0.0004	1.304e-05	0	1.489e-05	0	0	.	.	0	0	0	0	0	0	0	1.489e-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	.	.	.	.	.	.	.	.	0.05	59.43	50	chr19	21383228	.	A	G	59.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.55;DP=445;ExcessHet=0;FS=20.587;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.58;MQRankSum=-9.721;QD=0.62;ReadPosRankSum=-1.437;SOR=4.231	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,8:96:71:0|1:21383168_A_G:71,0,3671:21383168	9	0	1	0
chr19	21383229	21383229	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G683A:p.R228K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1307063752	0	2.465e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.692e-06	0.0003	1.305e-05	0	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-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	.	.	.	.	.	.	.	.	0.05	62.43	50	chr19	21383229	.	G	A	62.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.15;DP=444;ExcessHet=0;FS=20.294;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.57;MQRankSum=-9.669;QD=0.66;ReadPosRankSum=-1.649;SOR=4.185	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,8:95:74:0|1:21383168_A_G:74,0,3629:21383168	9	0	1	0
chr19	21383231	21383231	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G685A:p.E229K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232738302	0	2.329e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.685e-06	0.0004	1.304e-05	0	1.49e-05	0	0	.	.	0	0	0	0	0	0	0	1.49e-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	.	.	.	.	.	.	.	.	0.05	68.43	50	chr19	21383231	.	G	A	68.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.68;DP=442;ExcessHet=0;FS=17.218;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.54;MQRankSum=-9.565;QD=0.74;ReadPosRankSum=-2.063;SOR=4.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,8:93:80:0|1:21383168_A_G:80,0,3545:21383168	9	0	1	0
chr19	21383236	21383240	TTCTT	-	exonic	ZNF738	.	frameshift deletion	ZNF738:NM_001355237:exon5:c.690_694del:p.N230Kfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1282987711	0	1.781e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.573e-06	0.0003	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	68.39	50	chr19	21383235	.	ATTCTT	A	68.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.11;DP=442;ExcessHet=0;FS=17.218;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.54;MQRankSum=-9.565;QD=0.74;ReadPosRankSum=-1.967;SOR=4.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,8:93:80:0|1:21383168_A_G:80,0,3545:21383168	9	0	1	0
chr19	21383242	21383242	-	CCCA	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.696_697insCCCA:p.Q233Pfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486170617	0	1.644e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.576e-06	0.0003	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	35.39	50	chr19	21383242	.	C	CCCCA	35.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=438;ExcessHet=0;FS=14.138;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.51;MQRankSum=-9.354;QD=0.4;ReadPosRankSum=-2.421;SOR=3.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,7:89:47:0|1:21383168_A_G:47,0,3422:21383168	9	0	1	0
chr19	21972027	21972027	A	T	exonic	ZNF208	.	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.T3007A:p.C1003S	.	416	1103	3	0	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.0127552100504	0.0026	0.00119808	0.0024	0.0003	0.0018	0	0.0011	0.0038	0	0.0002	0.0023092	357	154602	rs181871198	0.0035	0.0035	0.0035	0.0035	0.0042	0.0034	0.0034	0.0041	0.0040	0.0007	0.0023	0.0017	0	0.0011	0.0024	0.0042	0.0027	0.0007	0.0025	0.0025	0.0028	0.0022	0.0041	0.0023	0.0022	0.0037	0.0036	0.0008	0	0.0027	0.0023	0	0.0008	0.0034	0.0041	0.0033	0.0008	0.0	0.91255	D	0.018	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	3.9	0.96120	H	-1.95	0.85003	D	-6.11	0.90023	D	0.411	0.45142	-0.2286	0.76924	T	0.625	0.86805	D	8	0.008183271	0.00186	T	0.012755	0.31594	T	0.298	0.61843	.	.	0.919954206972	0.91914	0.04710017405761299	0.04653	0.0494434710685	0.05415	0.557136833668	0.46863	T	0.04547	0.27132	T	-0.250673	0.14016	T	-0.134324	0.60607	T	0.125758097410143	0.14985	T	0.0730927	0.00774	T	0.71712226	0.79001	0.7036205	0.82531	0.71712226	0.79003	0.7036205	0.82532	-9.502	0.70871	D	.	.	0.699	0.72906	P	.;.	.;.	2.938460	0.39058	20.9	0.98202972220813578	0.39140	0.71944	0.35234	D	AEFBCI	0.363035	0.45207	N	0.124559381030849	0.47610	2.984333	-0.0554330176747897	0.37256	2.178919	3.74685629436072E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.39	2.39	0.28492	6.679000	0.74347	.	.	0.605000	0.46263	0.997000	0.40164	0.000000	0.08366	0.226000	0.22626	1.0:0.0:0.0:0.0	9.158	0.36164	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004251	0.000000	0.006812	0.008197	0.000000	0.008621	0.003106	0.000000	0.05	1328.43	122	chr19	21972027	.	A	T	1328.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.155;DP=752;ExcessHet=0;FS=4.309;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.28;MQRankSum=1.42;QD=10.8;ReadPosRankSum=-0.122;SOR=0.492	GT:AD:DP:GQ:PL	0/1:68,55:123:99:1340,0,1814	9	0	1	0
chr19	22073501	22073501	T	C	exonic	ZNF257	.	nonsynonymous SNV	ZNF257:NM_033468:exon3:c.T163C:p.C55R,ZNF257:NM_001316996:exon4:c.T67C:p.C23R	.	429	1070	21	2	0	25	0.0115473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0098	0.00519169	0.0078	0.0115	0.0034	0.0001	0.0106	0.0103	0.0066	0.0018	0.0073673	1139	154602	rs140340371	0.0091	0.0092	0.0092	0.0090	0.0122	0.0090	0.0089	0.0107	0.0103	0.0117	0.0041	0.0034	0.0001	0.0095	0.0122	0.0102	0.0082	0.0028	0.0093	0.0093	0.0091	0.0094	0.0118	0.0089	0.0087	0.0109	0.0106	0.0118	0	0.0048	0.0035	0.0004	0.0111	0.0102	0.0099	0.0114	0.0023	.	.	.	0.17	0.36630	T	0.046	0.21875	B	0.03	0.21741	B	.	.	.	.	0.999996	0.08975	N	0.525	0.13617	N	5.74	0.00711	T	.	.	.	0.394	0.43514	-1.0199	0.23747	T	0.028	0.11838	T	8	0.0069460273	0.00158	T	.	.	.	.	.	.	.	0.260249123532	0.25628	0.16124184765088048	0.16045	0.0335249413607	0.03509	0.448565125465	0.31748	T	0.063971	0.32312	T	-0.626921	0.00100	T	-0.66391	0.08005	T	0.00530471252972828	0.00057	T	0.0126987	0.00070	T	0.41284332	0.61612	0.438038	0.67203	0.41284332	0.61613	0.438038	0.67203	-9.446	0.70523	D	.	.	0.134	0.30945	B	.;.;.	.;.;.	0.681434	0.10498	7.214	0.55642375102258312	0.05385	0.00101	0.00653	N	AEFBI	0.027052	0.02141	N	-1.21465401055954	0.04787	0.2167791	-1.29097713094608	0.04552	0.2149569	1.1391893242295E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.86	-0.384	0.11853	0.223000	0.17501	.	.	0.335000	0.19678	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.4405:0.0:0.5595	2.618	0.04611	988	0.01987	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.005051	0.017663	0.023392	0.000000	0.043103	0.009146	0.015152	0.1	5894.14	251	chr19	22073501	.	T	C	5894.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.727;DP=765;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.054;SOR=0.679	GT:AD:DP:GQ:PL	0/1:119,113:232:99:2527,0,2861	8	0	2	0
chr19	30445577	30445577	G	A	exonic	ZNF536	.	nonsynonymous SNV	ZNF536:NM_001352260:exon2:c.G2015A:p.R672H,ZNF536:NM_014717:exon2:c.G2015A:p.R672H,ZNF536:NM_001376110:exon3:c.G2015A:p.R672H,ZNF536:NM_001376111:exon3:c.G2015A:p.R672H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.0228019778218	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409346557	6.845e-07	6.84e-07	1.362e-06	0	2.238e-05	0	0	.	.	0	2.238e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.166	0.39340	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	1.1	0.28011	L	2.99	0.09635	T	-0.69	0.19720	N	0.79	0.78641	-1.0554	0.12934	T	0.049	0.20987	T	10	0.35147578	0.51997	T	0.022802	0.45720	T	0.245	0.55201	.	.	0.204265027416	0.20035	0.30503438999123417	0.30416	2.08877544307	0.94702	0.760856807232	0.76057	T	0.011627	0.14923	T	-0.0844035	0.38997	T	-0.276151	0.47198	T	0.873841524124146	0.52371	D	0.959604	0.85028	D	0.14585385	0.33415	0.14245452	0.33888	0.14585385	0.33414	0.14245452	0.33887	-5.452	0.41417	T	.	.	0.307	0.53564	B	.;.	.;.	5.682143	0.93006	33	0.99917972248775433	0.98518	0.98765	0.86563	D	AEFDBI	0.908830	0.86465	D	0.602692948853097	0.73343	5.950903	0.653921711295097	0.78904	6.97086	0.999999876047756	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.42	5.42	0.78666	9.503000	0.96975	11.794000	0.96459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	19.215	0.93760	770	0.49152	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	995.43	38	chr19	30445577	.	G	A	995.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.4;DP=436;ExcessHet=0;FS=6.767;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.204;SOR=1.101	GT:AD:DP:GQ:PL	0/1:56,38:94:99:1007,0,1265	9	0	1	0
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2531	0.3917	0.1262	0.2590	0.2378	0.2220	0.2567	0.3809	0.0003842	10	26028	rs78615454	1.45e-05	0.0007	1.512e-05	1.387e-05	0.0011	9.32e-06	7.91e-06	0.0005	0.0003	0	2.247e-05	0	0	0	0.0011	9.078e-07	0	0.0002	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.295	0.33360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195965	0.73516	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.996723	0.99494	44	0.99829210797084544	0.91112	0.99069	0.90771	D	AEFDBI	0.292062	0.40303	N	1.04336661485944	0.96932	15.344	0.880771434466692	0.94678	12.953	0.999999999954891	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	9.105000	0.93598	11.713000	0.94685	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	17.685	0.88159	819	0.41190	BRO1 domain|BRO1 domain|BRO1 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	0.282981	0.237374	0.312500	0.260234	0.250000	0.301724	0.234756	0.329545	0.2	1287.57	84	chr19	32999679	.	G	A	1287.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.493;DP=1779;ExcessHet=1.5895;FS=0.727;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=54.17;MQRankSum=-5.929;QD=1.54;ReadPosRankSum=2.84;SOR=0.708	GT:AD:DP:GQ:PL	0/1:170,42:212:99:473,0,4565	6	0	4	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	0.05	1859.43	42	chr19	35720516	.	T	C	1859.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.374;DP=509;ExcessHet=0;FS=1.984;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.293;SOR=0.542	GT:AD:DP:GQ:PL	0/1:94,84:178:99:1871,0,2527	9	0	1	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T,WDR87:NM_031951:exon6:c.T6461C:p.I2154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2778	1219.23	94	chr19	37887093	.	A	G	1219.23	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-4.045;DP=912;ExcessHet=2.8389;FS=220.707;InbreedingCoeff=-0.3793;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=2.52;ReadPosRankSum=0.746;SOR=9.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,19:119:87:0|1:37887093_A_G:87,0,3682:37887093	4	0	5	1
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I,WDR87:NM_031951:exon6:c.G6459A:p.M2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	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	1684.09	82	chr19	37887095	.	C	T	1684.09	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.008;DP=898;ExcessHet=4.5998;FS=234.958;InbreedingCoeff=-0.6664;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=2.77;ReadPosRankSum=0.853;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,19:119:87:0|1:37887093_A_G:87,0,3682:37887093	0	0	6	4
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T,WDR87:NM_031951:exon6:c.T6458C:p.M2153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	1987.18	91	chr19	37887096	.	A	G	1987.18	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-4.166;DP=879;ExcessHet=2.8389;FS=279.749;InbreedingCoeff=-0.5261;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=3.68;ReadPosRankSum=0.833;SOR=9.883	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:90,37:127:99:.:.:414,0,2159:.	2	0	5	3
chr19	39915399	39915399	T	C	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon5:c.A2615G:p.Y872C	.	425	1091	6	0	0	6	0.00274223	.	.	.	2359022	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.519	0.0963856147158	0.0013	0.000798722	0.0011	0.0005	0.0008	0	0	0.0015	0	0.0011	0.0008279	128	154602	rs150766794	0.0012	0.0010	0.0012	0.0012	0.0025	0.0011	0.0011	0.0014	0.0012	0.0002	0.0009	0.0028	0	3.098e-05	0.0025	0.0013	0.0009	0.0007	0.0007	0.0007	0.0007	0.0008	0.0014	0.0006	0.0006	0.0010	0.0008	0.0002	0	0.0014	0.0032	0	0	0.0034	0.0010	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	0.000008	0.62929	D	0.000000	0.971595	0.38883	D	.	.	.	.	.	.	.	.	.	.	.	0.252	0.86771	D	0.510	0.81604	D	10	0.047246516	0.04017	T	0.096386	0.76594	D	.	.	.	.	.	.	.	.	.	.	0.768693327904	0.77229	T	.	.	.	0.143401	0.68648	D	0.387657	0.91697	D	0.176212698221207	0.18993	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.166289	0.86585	29.0	0.99788736684908597	0.87484	0.99263	0.93634	D	AEFDBI	0.814095	0.73640	D	0.749172804148579	0.82851	7.865983	0.643834752409823	0.78152	6.819207	0.919517521321482	0.26604	0.59774	0.34471	0	0.588066	0.40923	0	0.478664	0.07449	1	0.63947	0.58350	0	.	.	4.59	4.59	0.56297	6.150000	0.71577	.	.	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	13.237	0.59404	627	0.65350	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D 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	0.003535	0.005102	0.002717	0.000000	0.100000	0.000000	0.000000	0.003788	0.05	2055.43	36	chr19	39915399	.	T	C	2055.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.714;DP=453;ExcessHet=0;FS=4.953;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=0.444;SOR=1.085	GT:AD:DP:GQ:PL	0/1:66,80:146:99:2067,0,1589	9	0	1	0
chr19	41718368	41718368	C	A	exonic	CEACAM5	.	nonsynonymous SNV	CEACAM5:NM_001291484:exon6:c.C1478A:p.T493K,CEACAM5:NM_001308398:exon6:c.C1475A:p.T492K,CEACAM5:NM_004363:exon6:c.C1478A:p.T493K	.	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.000920496056268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.806	0.03068	T	0.154	0.32040	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.68	0.12371	T	-1.2	0.30555	N	0.178	0.19190	-1.0777	0.07801	T	0.041	0.17785	T	9	0.07884061	0.12613	T	9.2E-4	0.00889	T	0.036	0.09122	0.397	0.42426	0.202086224978	0.19791	0.19471143802567653	0.19389	0.438197802347	0.43858	0.307134151459	0.11474	T	0.029513	0.30451	T	-0.346061	0.04979	T	-0.734869	0.04110	T	0.116694410426311	0.14103	T	0.225177	0.05508	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.22609	B	.;.;.;.;.	.;.;.;.;.	-0.850757	0.01011	0.042	0.32377863381708927	0.01873	0.00204	0.01168	N	AEFBI	0.031960	0.03520	N	-1.2277872459574	0.04601	0.2079845	-1.47214771546951	0.02575	0.1186755	3.12280794266525E-4	0.06498	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.39	-4.78	0.02975	-0.910000	0.04163	-20.000000	0.00162	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4716:0.2545:0.0:0.2739	2.905	0.05368	830	0.39242	.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like 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	.	.	.	.	.	.	.	.	0.05	1756.43	38	chr19	41718368	.	C	A	1756.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.037;DP=466;ExcessHet=0;FS=1.371;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.827;SOR=0.561	GT:AD:DP:GQ:PL	0/1:81,68:149:99:1768,0,2209	9	0	1	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	.	.	.	.	.	.	.	.	0.1667	424.85	82	chr19	42095399	.	C	G	424.85	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-3.357;DP=824;ExcessHet=0.7463;FS=238.433;InbreedingCoeff=-0.2273;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=-0.96;SOR=8.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,13:63:99:.:.:111,0,1189:.	6	0	3	1
chr19	43486867	43486867	G	T	exonic	PHLDB3	.	nonsynonymous SNV	PHLDB3:NM_198850:exon11:c.C1253A:p.S418Y	.	425	1092	5	0	0	5	0.00228415	.	.	.	741959	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.077	0.0100657709054	0.0002	0.000798722	0.0005	0	0.0003	0.0002	0	0.0002	0	0.0045	0.0003752	58	154602	rs141588036	0.0003	0.0003	0.0001	0.0004	0.0041	0.0003	0.0003	0.0037	0.0036	3.112e-05	7.786e-05	0	2.555e-05	0	0.0027	4.713e-05	0.0003	0.0041	0.0002	0.0002	0.0001	0.0003	0.0052	0.0001	0.0001	0.0036	0.0031	2.406e-05	0	0	0	0	0	0	5.881e-05	0	0.0052	0.004	0.65419	D	0.036	0.72224	D	0.679	0.41373	P	0.143	0.33763	B	.	.	.	.	0.999996	0.08975	N	0	0.06538	N	0.86	0.46777	T	-2.0	0.46146	N	0.342	0.38335	-1.0548	0.13093	T	0.076	0.30584	T	9	0.008742094	0.00198	T	0.010066	0.26169	T	0.077	0.22490	.	.	0.573511999043	0.57018	0.47402899954013006	0.47321	0.254992952433	0.28080	0.515467464924	0.40989	T	0.004917	0.38036	T	-0.579452	0.00194	T	-0.607855	0.12159	T	0.0582364144455476	0.06887	T	0.748825	0.36981	T	0.103424236	0.24446	0.17320788	0.39630	0.103424236	0.24445	0.17320788	0.39630	-4.034	0.24311	T	.	.	0.110	0.32153	B	.;.	.;.	3.211600	0.43716	21.8	0.99171605430664289	0.54412	0.65249	0.32674	D	AEFDBI	0.107075	0.21344	N	-0.313991726659636	0.28616	1.579841	-0.296880375292858	0.28201	1.570482	0.173957573083162	0.17776	0.660377	0.49826	0	0.694456	0.67091	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	3.99	2.92	0.32998	3.040000	0.49489	.	.	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.261000	0.23543	0.0:0.0:0.7795:0.2205	9.020	0.35357	889	0.27310	.;.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	757.43	36	chr19	43486867	.	G	T	757.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.953;DP=402;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0.37;SOR=0.728	GT:AD:DP:GQ:PL	0/1:41,29:70:99:769,0,1195	9	0	1	0
chr19	43554740	43554740	C	T	exonic	XRCC1	.	nonsynonymous SNV	XRCC1:NM_006297:exon4:c.G320A:p.R107H	.	403	1113	6	0	0	6	0.00268817	.	.	.	741963	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.464	0.0530495574626	0.0003	0.000798722	0.0005	0	8.637e-05	0.0002	0	0.0002	0	0.0029	0.0004398	68	154602	rs2228487	0.0003	0.0003	0.0002	0.0004	0.0039	0.0003	0.0003	0.0035	0.0034	5.974e-05	8.947e-05	0	2.519e-05	0	0.0017	7.555e-05	0.0003	0.0039	0.0002	0.0002	0.0001	0.0003	0.0048	0.0002	0.0001	0.0033	0.0028	2.407e-05	0	6.54e-05	0	0	0	0	8.821e-05	0.0005	0.0048	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.77	0.25841	T	-4.42	0.77470	D	0.613	0.62950	-0.7742	0.56625	T	0.170	0.51133	T	10	0.016597629	0.00350	T	0.05305	0.65316	D	0.464	0.76023	.	.	0.706338937978	0.70378	0.5654144105007113	0.56468	0.7923309474	0.65863	0.663354516029	0.61889	T	0.130731	0.45980	T	-0.20468	0.20134	T	-0.0698351	0.65637	T	0.173886074572367	0.18840	T	0.89601	0.66542	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	0.75696	P	.;.;.;.	.;.;.;.	4.111503	0.61381	24.3	0.99948199941252902	0.99923	0.90956	0.52581	D	AEFDBCI	0.547814	0.56136	D	0.534067131463498	0.69117	5.311878	0.415212351183495	0.62511	4.467798	0.999422425849182	0.39630	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.92	3.88	0.43959	5.457000	0.66411	.	.	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.453000	0.27962	0.0:0.9123:0.0:0.0877	11.950	0.52237	889	0.27310	.;DNA-repair protein Xrcc1, N-terminal;DNA-repair protein Xrcc1, N-terminal;DNA-repair protein Xrcc1, 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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	1427.43	33	chr19	43554740	.	C	T	1427.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=458;ExcessHet=0;FS=2.977;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-1.365;SOR=0.914	GT:AD:DP:GQ:PL	0/1:81,63:144:99:1439,0,1773	9	0	1	0
chr19	43613643	43613643	C	G	exonic	SRRM5	.	nonsynonymous SNV	SRRM5:NM_001145641:exon1:c.C1522G:p.Q508E	.	441	1044	36	1	0	38	0.0178739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0028	0.00698882	0.0147	0	0.0105	0.0018	0	0.0036	0.0158	0.0314	0.0024967	386	154602	rs201956919	0.0044	0.0042	0.0034	0.0055	0.0342	0.0043	0.0043	0.0332	0.0327	0.0007	0.0024	0.0041	8.424e-05	0.0002	0.0121	0.0027	0.0050	0.0342	0.0037	0.0048	0.0034	0.0040	0.0336	0.0034	0.0033	0.0291	0.0274	0.0013	0.0231	0.0034	0.0045	0.0007	0.0002	0.0309	0.0035	0.0036	0.0336	1.0	0.00964	T	0.603	0.07868	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	.	.	.	0.74	0.02038	N	0.02	0.00308	-0.9896	0.32702	T	0.020	0.08266	T	8	0.0035606325	0.00064	T	.	.	.	0.004	0.00165	.	.	.	.	0.003820140044259554	0.00358	0.0132014889306	0.01271	0.201208040118	0.00493	T	5.44E-4	0.00213	T	-0.714455	0.00030	T	-0.775357	0.02596	T	0.000448618851655258	0.00004	T	0.146485	0.01205	T	0.03308003	0.03456	0.038168784	0.03628	0.03308003	0.03455	0.038168784	0.03628	0.626	0.00188	T	.	.	0.066	0.02257	B	.;.	.;.	-2.353351	0.00045	0.001	0.52147503178587262	0.04693	0.00072	0.00504	N	AEFBI	0.014288	0.00221	N	-1.69771834808168	0.00850	0.03676546	-1.7240476626815	0.01035	0.04643669	0.00149454894049602	0.08586	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	4.31	-5.2	0.02608	-3.864000	0.00391	.	.	-0.691000	0.04129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.146:0.3384:0.2883:0.2272	2.269	0.03837	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	0.012626	0.000000	0.000000	0.000000	0.000000	0.000000	0.041667	0.045455	0.05	4769.43	160	chr19	43613643	.	C	G	4769.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.37;DP=1665;ExcessHet=0;FS=1.747;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.94;MQRankSum=-1.054;QD=11.78;ReadPosRankSum=0.06;SOR=0.837	GT:AD:DP:GQ:PL	0/1:214,191:405:99:4781,0,5108	9	0	1	0
chr19	43626808	43626808	A	G	exonic	CADM4	.	nonsynonymous SNV	CADM4:NM_145296:exon4:c.T475C:p.Y159H	.	378	1093	48	3	0	54	0.0241071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	.	0.0048	0.0091853	0.0069	0.0077	0.0026	0.0003	0.0003	0.0032	0.0104	0.0329	0.0061901	957	154602	rs112876885	0.0047	0.0047	0.0037	0.0057	0.0338	0.0046	0.0045	0.0327	0.0323	0.0095	0.0027	0.0040	0.0001	0.0003	0.0138	0.0027	0.0054	0.0338	0.0054	0.0054	0.0052	0.0056	0.0297	0.0051	0.0050	0.0257	0.0242	0.0083	0.0208	0.0036	0.0043	0.0002	9.422e-05	0.0204	0.0033	0.0062	0.0297	0.056	0.38185	T	0.011	0.64786	D	0.001	0.07471	B	0.002	0.06944	B	0.002595	0.36278	N	0.235044	0.606865	0.32586	D	2.58	0.75369	M	-1.14	0.77843	T	-3.09	0.63438	D	0.255	0.28849	-0.5179	0.67993	T	0.289	0.66036	T	10	0.011398047	0.00249	T	.	.	.	0.313	0.63482	.	.	0.710195464035	0.70766	0.7519354844662318	0.75140	2.27231841279	0.96288	0.561181128025	0.47434	T	0.499057	0.82023	T	-0.351502	0.04633	T	-0.254687	0.49352	T	0.0259419428038908	0.01398	T	0.835616	0.50622	T	0.13797368	0.31927	0.17674974	0.40231	0.13797368	0.31927	0.17674974	0.40230	-7.972	0.60879	D	.	.	0.392	0.59143	A	.	.	3.999448	0.58918	24.0	0.99369497534935214	0.61368	0.87655	0.47267	D	AEFDBI	0.337104	0.43501	N	-0.495223544451615	0.22237	1.185929	-0.426924970423787	0.24210	1.324519	0.0138866362619238	0.12523	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.48	3.35	0.37468	1.865000	0.39117	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.827000	0.38976	0.7721:0.1484:0.0795:0.0	7.041	0.24198	895	0.25842	CD80-like, immunoglobulin C2-set|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	0.013092	0.010101	0.008152	0.002924	0.000000	0.000000	0.021341	0.037879	0.05	939.43	44	chr19	43626808	.	A	G	939.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=431;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.465;SOR=0.749	GT:AD:DP:GQ:PL	0/1:53,42:95:99:951,0,1204	9	0	1	0
chr19	44132312	44132312	A	T	exonic	ZNF225	.	nonsynonymous SNV	ZNF225:NM_013362:exon5:c.A1698T:p.R566S,ZNF225:NM_001321685:exon6:c.A1698T:p.R566S	.	425	1071	25	1	0	27	0.0124481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0007	0.00579073	0.0041	0.0001	0.0007	0.0001	0.0003	0.0012	0.0022	0.0240	0.0035575	550	154602	rs183264537	0.0022	0.0022	0.0015	0.0029	0.0230	0.0022	0.0021	0.0221	0.0218	0.0001	0.0004	0.0017	5.04e-05	0.0005	0.0069	0.0009	0.0026	0.0230	0.0015	0.0015	0.0011	0.0019	0.0251	0.0013	0.0012	0.0215	0.0201	0.0001	0	0.0003	0.0023	0	0.0005	0.0102	0.0011	0.0014	0.0251	0.001	0.78490	D	0.0	0.92824	D	0.949	0.53761	P	0.719	0.54822	P	.	.	.	.	1	0.81001	D	1.515	0.38264	L	2.16	0.19166	T	-1.96	0.45404	N	0.127	0.12913	-1.0569	0.12543	T	0.079	0.31466	T	9	0.004302144	0.00087	T	.	.	.	0.054	0.15330	.	.	0.313210971179	0.30940	0.029882056873656238	0.02937	0.434351109688	0.43575	0.381959468126	0.22535	T	0.014165	0.12111	T	-0.568964	0.00225	T	-0.572468	0.15224	T	0.0614131835042637	0.07389	T	0.608739	0.23025	T	0.14984234	0.34141	0.20630753	0.44839	0.14984234	0.34141	0.20630753	0.44838	-7.151	0.55128	T	.	.	0.932	0.86453	P	.;.	.;.	2.171386	0.27671	17.54	0.99258111684314854	0.57121	0.48042	0.28118	N	AEFBCI	0.299817	0.40877	N	-0.352147202336826	0.27193	1.490012	-0.603015465912891	0.19415	1.041559	1.1580317453342E-4	0.05269	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	2.76	1.67	0.23149	-1.716000	0.01978	.	.	0.733000	0.85838	0.000000	0.06391	0.000000	0.08366	0.737000	0.35335	0.7499:0.0:0.2501:0.0	6.024	0.18872	625	0.65529	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	0.007049	0.000000	0.001359	0.002924	0.000000	0.008621	0.015244	0.022727	0.1	3307.14	38	chr19	44132312	.	A	T	3307.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.845;DP=625;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=1.38;SOR=0.712	GT:AD:DP:GQ:PL	0/1:80,68:148:99:1655,0,1974	8	0	2	0
chr19	49427301	49427301	C	G	exonic	GFY	.	nonsynonymous SNV	GFY:NM_001195256:exon2:c.C871G:p.P291A,GFY:NM_001385187:exon3:c.C871G:p.P291A	.	.	.	.	.	.	.	.	.	.	.	2197793	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.0214674237314	.	.	8.122e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs753351759	3.469e-05	3.283e-05	2.996e-05	3.954e-05	0.0002	2.686e-05	2.375e-05	8.651e-05	6.751e-05	0	0	0	0	0	0	3.244e-05	1.727e-05	0.0002	2.628e-05	2.626e-05	3.853e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.088	0.06587	.	.	.	.	.	.	.	0.056796998	0.06423	T	0.021467	0.44242	T	.	.	.	.	0.115124310173	0.11017	0.09474283047583909	0.09406	.	.	.	.	.	0.007453	0.06855	T	-0.522841	0.00423	T	-0.719501	0.04819	T	.	.	.	0.441756	0.12241	T	0.017502159	0.00278	0.04742861	0.06829	0.017502159	0.00278	0.04742861	0.06829	-3.175	0.12177	T	.	.	0.082	0.08802	B	.;.	.;.	-0.169019	0.03252	0.551	0.94419985140581764	0.24826	0.06909	0.12935	N	AEFDBI	0.045785	0.07529	N	.	.	.	.	.	.	0.976147372326668	0.29698	0.676563	0.55306	0	0.563428	0.19063	0	0.673471	0.61138	0	0.530356	0.10902	0	.	.	3.4	-6.79	0.01554	-0.957000	0.03971	-2.422000	0.03774	0.545000	0.25583	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2472:0.1971:0.167:0.3887	0.395	0.00388	862	0.33134	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2782.43	33	chr19	49427301	.	C	G	2782.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.131;DP=668;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.005;SOR=0.705	GT:AD:DP:GQ:PL	0/1:122,112:234:99:2794,0,3126	9	0	1	0
chr19	52321680	52321680	G	C	exonic	ZNF480	.	nonsynonymous SNV	ZNF480:NM_001297624:exon4:c.G301C:p.D101H,ZNF480:NM_001297625:exon4:c.G199C:p.D67H,ZNF480:NM_144684:exon5:c.G430C:p.D144H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00308758147372	.	.	8.252e-06	0	0	0	0.0002	0	0	0	6.5e-06	1	154602	rs773223002	1.368e-06	1.368e-06	1.361e-06	1.375e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.872e-05	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.31235	T	0.215	0.28764	T	0.947	0.61523	P	0.453	0.58514	P	.	.	.	.	1	0.08975	N	1.15	0.29295	L	3.35	0.07236	T	-1.1	0.28497	N	0.135	0.13198	-1.0087	0.27323	T	0.027	0.11529	T	9	0.07949197	0.12792	T	0.003088	0.06696	T	0.041	0.10877	0.298	0.26362	0.195762928549	0.19159	0.21709009889337896	0.21625	0.26005264081	0.28572	0.272967875004	0.06531	T	0.007851	0.07229	T	-0.277421	0.10944	T	-0.636273	0.09943	T	0.185041289044061	0.19547	T	0.0467953	0.00383	T	0.038076647	0.05002	0.040264063	0.04312	0.038076647	0.05002	0.040264063	0.04312	-4.337	0.36093	T	.	.	0.095	0.18372	B	.;.;.	.;.;.	1.310774	0.17138	12.98	0.9685548969273573	0.31358	0.01059	0.03935	N	AEFBI	0.033279	0.03917	N	-0.804450662065105	0.13197	0.6484033	-0.920822052190615	0.11604	0.5921423	2.74421949225783E-4	0.06300	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	2.02	-0.8	0.10347	-0.069000	0.11501	.	.	0.367000	0.20222	0.000000	0.06391	0.000000	0.08366	0.899000	0.43558	0.4511:0.0:0.2353:0.3136	1.471	0.02271	988	0.01987	.;Krueppel-associated box;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1526.43	44	chr19	52321680	.	G	C	1526.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.205;DP=454;ExcessHet=0;FS=2.511;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.52;SOR=0.489	GT:AD:DP:GQ:PL	0/1:48,60:108:99:1538,0,1214	9	0	1	0
chr19	54633081	54633081	G	A	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001081637:exon7:c.G1024A:p.V342M,LILRB1:NM_001081638:exon7:c.G1024A:p.V342M,LILRB1:NM_001081639:exon7:c.G1024A:p.V342M,LILRB1:NM_001278398:exon7:c.G1024A:p.V342M,LILRB1:NM_001278399:exon7:c.G1024A:p.V342M,LILRB1:NM_006669:exon8:c.G1024A:p.V342M	.	0	1507	15	0	0	15	0.00495213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00102281044022	.	.	1.648e-05	0	0	0.0001	0	0	0	6.056e-05	1.29e-05	2	154602	rs747657206	1.71e-05	2.052e-05	1.906e-05	1.513e-05	5.974e-05	1.174e-05	9.92e-06	1.583e-05	9.3e-06	5.974e-05	0	0	2.519e-05	0	0	1.349e-05	4.967e-05	4.637e-05	1.97e-05	1.97e-05	2.568e-05	1.344e-05	0.0002	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.823e-05	0	0	0	0.0002	0	0	0	0	0	0.04	0.42199	D	0.034	0.53072	D	1.0	0.90584	D	0.982	0.75477	D	0.786297	0.06684	N	1.155720	0.999532	0.21028	N	.	.	.	5.16	0.01191	T	-2.18	0.50502	N	0.278	0.34336	-1.0074	0.27727	T	0.016	0.06616	T	10	0.45277146	0.58803	T	0.001023	0.01120	T	0.131	0.35738	0.775	0.90080	0.685802083804	0.68311	0.0738663278184288	0.07323	0.159280941883	0.17976	0.360618680716	0.19476	T	0.060983	0.31532	T	-0.256387	0.13327	T	-0.43693	0.29152	T	0.491022676229477	0.32301	T	0.884312	0.62289	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.50600	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.345404	0.30063	18.32	0.99692323807098115	0.80044	0.03860	0.09219	N	AEFDBHCI	0.107775	0.21461	N	-0.187593301730475	0.33651	1.911516	-0.456010667312151	0.23379	1.27461	0.970439761532573	0.29207	0.722319	0.85440	0	0.698795	0.70079	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	2.25	1.16	0.19936	0.616000	0.24038	.	.	0.522000	0.23927	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.1912:0.0:0.8088:0.0	4.948	0.13349	809	0.43032	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	377.43	243	chr19	54633081	.	G	A	377.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.76;DP=2474;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.34;MQRankSum=-7.715;QD=1.07;ReadPosRankSum=-1.114;SOR=0.689	GT:AD:DP:GQ:PL	0/1:306,46:352:99:389,0,7436	9	0	1	0
chr19	54983484	54983484	C	T	exonic	NLRP2	.	nonsynonymous SNV	NLRP2:NM_001174082:exon5:c.C1720T:p.H574Y,NLRP2:NM_001174081:exon6:c.C1786T:p.H596Y,NLRP2:NM_001348003:exon6:c.C1777T:p.H593Y,NLRP2:NM_017852:exon6:c.C1786T:p.H596Y,NLRP2:NM_001174083:exon7:c.C1717T:p.H573Y	.	0	1489	33	0	0	33	0.0109598	.	.	.	2818828	not_provided|NLRP2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.093	.	0.0039	0.00479233	0.0048	0.0010	0.0028	0	0.0026	0.0058	0.0044	0.0079	0.0046312	716	154602	rs145361990	0.0046	0.0046	0.0044	0.0048	0.0088	0.0045	0.0044	0.0083	0.0081	0.0010	0.0030	0.0007	2.519e-05	0.0019	0.0054	0.0048	0.0047	0.0088	0.0042	0.0042	0.0041	0.0044	0.0093	0.0040	0.0039	0.0072	0.0064	0.0012	0.0208	0.0077	0.0003	0	0.0011	0	0.0058	0.0052	0.0093	1.0	0.00964	T	0.499	0.11933	T	0.0	0.02946	B	0.001	0.06944	B	0.074628	0.02289	N	2.378200	1	0.08975	N	0.41	0.12415	N	-0.77	0.73949	T	0.06	0.06253	N	0.07	0.05162	-0.9344	0.43485	T	0.182	0.53011	T	10	0.00559476	0.00124	T	.	.	.	0.093	0.26882	.	.	0.395143324098	0.39128	0.03770287522398932	0.03716	0.0496665203147	0.05445	0.261837333441	0.05111	T	0.007063	0.06479	T	-0.558919	0.00258	T	-0.570216	0.15430	T	0.00170639181622296	0.00017	T	.	.	.	0.028675193	0.02242	0.030178016	0.01442	0.028675193	0.02242	0.030178016	0.01442	-4.825	0.35836	T	.	.	0.071	0.05711	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-1.149311	0.00584	0.015	0.31505606775996231	0.01779	0.00872	0.03453	N	AEFDBI	0.067742	0.13331	N	-1.27453258896287	0.03984	0.1790299	-1.37898663334734	0.03477	0.1622601	9.90866055990346E-5	0.04910	0.706298	0.61202	0	0.709663	0.81188	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	1.79	-0.749	0.10525	-2.326000	0.01195	.	.	-0.300000	0.06199	0.000000	0.06391	.	.	0.000000	0.00833	0.0:0.5254:0.0:0.4746	4.275	0.10253	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	1	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.006098	0.000000	0.1	4609.14	212	chr19	54983484	.	C	T	4609.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.15;DP=1377;ExcessHet=0.2348;FS=1.674;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=1.44;SOR=0.673	GT:AD:DP:GQ:PL	0/1:111,85:196:99:2306,0,3131	8	0	2	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	2585.36	73	chr19	55358524	.	C	*	2585.36	.	AC=17;AF=0.85;AN=20;BaseQRankSum=1.02;DP=951;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=17;MLEAF=0.85;MQ=60;MQRankSum=0;QD=3.25;ReadPosRankSum=-1.373;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,96:98:99:.:.:4341,300,0:.	1	8	1	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	2730.36	73	chr19	55358535	.	T	*	2730.36	.	AC=17;AF=0.85;AN=20;BaseQRankSum=0.818;DP=956;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=17;MLEAF=0.85;MQ=60;MQRankSum=0;QD=3.4;ReadPosRankSum=0.165;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,96:98:99:.:.:4341,300,0:.	1	8	1	0
chr19	55711849	55711849	C	T	exonic	NLRP9	.	nonsynonymous SNV	NLRP9:NM_176820:exon8:c.G2794A:p.V932M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00295133415361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.20912	T	0.196	0.32040	T	0.107	0.26081	B	0.094	0.30180	B	.	.	.	.	1	0.08975	N	.	.	.	1.02	0.40749	T	-0.25	0.11008	N	0.277	0.31365	-1.0027	0.29139	T	0.054	0.22808	T	9	0.16734806	0.31224	T	0.002951	0.06280	T	0.014	0.01968	0.513	0.61153	0.295623431141	0.29171	0.07242330243012213	0.07179	0.055191105415	0.06109	0.335673987865	0.15790	T	0.013125	0.11410	T	-0.323353	0.06627	T	-0.702251	0.05704	T	0.0939414625412152	0.11677	T	0.531747	0.17685	T	0.028623257	0.02227	0.05184922	0.08425	0.028623257	0.02227	0.05184922	0.08425	-4.256	0.27556	T	.	.	0.120	0.29088	B	.;.	.;.	-0.371252	0.02323	0.248	0.69831593299366335	0.09098	0.00780	0.03203	N	AEFDBI	0.036383	0.04840	N	-1.46234217500512	0.02121	0.09334319	-1.57228087575093	0.01827	0.08322415	0.00607051202303455	0.11119	0.487112	0.14033	0	0.550933	0.16991	0	0.573888	0.23631	0	0.562822	0.20929	0	.	.	3.13	-4.15	0.03617	-1.624000	0.02141	-5.906000	0.01557	-0.915000	0.02235	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.3193:0.313:0.1568:0.2109	0.532	0.00588	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	.	.	.	.	.	.	.	.	0.05	2581.43	37	chr19	55711849	.	C	T	2581.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.72;DP=568;ExcessHet=0;FS=4.302;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=-1.156;SOR=0.951	GT:AD:DP:GQ:PL	0/1:142,107:249:99:2593,0,3223	9	0	1	0
chr19	57131045	57131045	C	A	exonic	USP29	.	nonsynonymous SNV	USP29:NM_020903:exon4:c.C2370A:p.D790E	.	428	1050	44	0	0	44	0.0205224	.	.	.	2815428	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.209	.	0.0052	0.00459265	0.0059	0.0012	0.0032	0	0.0009	0.0077	0.0056	0.0089	0.0059443	919	154602	rs35394887	0.0070	0.0070	0.0069	0.0071	0.0196	0.0069	0.0068	0.0167	0.0156	0.0013	0.0041	0.0155	2.519e-05	0.0012	0.0196	0.0073	0.0076	0.0096	0.0052	0.0052	0.0055	0.0048	0.0081	0.0049	0.0047	0.0064	0.0062	0.0011	0.0451	0.0068	0.0147	0	0.0009	0.0170	0.0069	0.0085	0.0081	0.089	0.32141	T	0.199	0.27679	T	0.897	0.49385	P	0.498	0.47596	P	.	.	.	.	1	0.08975	N	1.75	0.45442	L	-0.7	0.72785	T	-0.66	0.19085	N	0.017	0.00445	-0.8132	0.54356	T	0.203	0.56045	T	9	0.0063093305	0.00142	T	.	.	.	0.209	0.49871	0.439	0.49321	0.643592481467	0.64065	0.025657874678243223	0.02516	0.163922921691	0.18491	0.342741340399	0.16848	T	0.031903	0.22250	T	-0.587765	0.00173	T	-0.610946	0.11908	T	0.0112532268028135	0.00166	T	0.258674	0.04115	T	0.046043307	0.07641	0.04808295	0.07066	0.046043307	0.07640	0.04808295	0.07066	-2.455	0.05481	T	.	.	0.114	0.22789	B	.;.	.;.	0.128065	0.05241	1.746	0.93809292540599365	0.23783	0.08314	0.14259	N	AEFBI	0.039674	0.05796	N	-0.670287111582421	0.16871	0.8634115	-0.888872341669777	0.12356	0.6351659	2.36954909793107E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.05	-1.45	0.08365	-1.450000	0.02496	.	.	-0.218000	0.08083	0.029000	0.20367	0.000000	0.08366	0.068000	0.16518	0.0:0.5297:0.0:0.4703	5.801	0.17677	952	0.10565	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016113	0.005051	0.017663	0.040936	0.000000	0.025862	0.012195	0.000000	0.1	2787.14	98	chr19	57131045	.	C	A	2787.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.46;DP=895;ExcessHet=0.2348;FS=10.788;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.173;SOR=1.11	GT:AD:DP:GQ:PL	0/1:60,53:113:99:1492,0,1610	8	0	2	0
chr19	57702458	57702458	C	T	exonic	ZNF154	.	nonsynonymous SNV	ZNF154:NM_001085384:exon3:c.G491A:p.S164N	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0073	0.00439297	0.0066	0.0013	0.0025	0.0122	0.0150	0.0079	0.0066	0.0010	0.0064165	992	154602	rs61738876	0.0091	0.0091	0.0093	0.0088	0.0104	0.0089	0.0089	0.0102	0.0101	0.0015	0.0027	0.0010	0.0091	0.0124	0.0002	0.0104	0.0063	0.0013	0.0065	0.0065	0.0065	0.0065	0.0114	0.0062	0.0060	0.0092	0.0090	0.0014	0	0.0026	0.0012	0.0114	0.0136	0	0.0099	0.0038	0.0014	0.14	0.25664	T	0.204	0.27235	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.45	0.12780	N	3.71	0.04046	T	-0.75	0.21003	N	0.09	0.06854	-0.9203	0.45513	T	0.003	0.00994	T	9	0.004165828	0.00082	T	.	.	.	0.040	0.10527	.	.	0.0986583533028	0.09354	0.03319861772966154	0.03267	0.086980305371	0.09809	0.242131650448	0.02985	T	0.005791	0.05238	T	-0.787549	0.00010	T	-0.891712	0.00563	T	0.00463790540218513	0.00050	T	.	.	.	0.14616975	0.33473	0.10676776	0.25691	0.14616975	0.33473	0.10676776	0.25690	-5.569	0.42508	T	.	.	0.158	0.34970	B	.	.	-0.437667	0.02075	0.192	0.86377061022671786	0.16495	0.01518	0.05011	N	AEFBI	0.025335	0.01718	N	-1.2493264316387	0.04309	0.194205	-1.23585155959919	0.05344	0.254384	1.03873629729759E-4	0.05123	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.491896	0.07777	0	.	.	3.03	-0.407	0.11768	-5.338000	0.00155	.	.	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.0:0.4907:0.233:0.2763	3.104	0.05954	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	rs61738876	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	0.007576	0.1	4811.14	37	chr19	57702458	.	C	T	4811.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.65;DP=807;ExcessHet=0.2348;FS=1.738;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.701;SOR=0.856	GT:AD:DP:GQ:PL	0/1:114,95:209:99:2507,0,2822	8	0	2	0
chr19	57916383	57916383	G	C	exonic	ZNF417	.	nonsynonymous SNV	ZNF417:NM_001297734:exon1:c.C29G:p.T10S,ZNF417:NM_152475:exon1:c.C29G:p.T10S	.	424	1091	7	0	0	7	0.00319781	.	.	.	705299	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.012	.	0.0070	0.00479233	0.0072	0.0020	0.0017	0.0177	0.0155	0.0080	0.0089	0.0019	0.007115	1100	154602	rs146519620	0.0089	0.0089	0.0092	0.0087	0.0110	0.0088	0.0087	0.0102	0.0098	0.0018	0.0017	0.0009	0.0110	0.0125	0.0019	0.0100	0.0072	0.0027	0.0068	0.0068	0.0067	0.0069	0.0166	0.0065	0.0063	0.0138	0.0127	0.0020	0	0.0020	0.0012	0.0166	0.0134	0	0.0096	0.0047	0.0056	0.637	0.05046	T	0.932	0.14865	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.19694	N	-1.33	0.00679	N	3.41	0.05574	T	0.29	0.04161	N	0.141	0.14054	-0.9145	0.46285	T	0.003	0.01092	T	9	0.0040403306	0.00079	T	.	.	.	0.012	0.01476	0.163	0.06730	0.221734844693	0.21761	0.04225834719548614	0.04170	.	.	0.465177088976	0.34019	T	0.001322	0.02166	T	-0.703322	0.00035	T	-0.767454	0.02853	T	0.00642501536434136	0.00071	T	0.00833667	0.00038	T	0.059754975	0.12180	0.05152348	0.08307	0.059754975	0.12180	0.05152348	0.08307	-2.413	0.05213	T	.	.	0.081	0.20313	B	.;.	.;.	0.411567	0.07823	4.518	0.22904005190390489	0.00943	0.01326	0.04577	N	ALL	0.041021	0.06181	N	-1.38757939138697	0.02753	0.1220436	-1.4236380656846	0.03017	0.1399422	0.999856282716645	0.44174	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	1.93	-0.389	0.11835	1.056000	0.30089	.	.	0.597000	0.34315	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.181:0.2821:0.5369:0.0	3.18	0.06188	982	0.03397	.;.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.1	2852.14	36	chr19	57916383	.	G	C	2852.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.2;DP=559;ExcessHet=0.2348;FS=1.465;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.87;MQRankSum=-1.791;QD=10.45;ReadPosRankSum=0.161;SOR=0.815	GT:AD:DP:GQ:PL	0/1:82,61:143:99:1465,0,1849	8	0	2	0
chr20	3270526	3270526	G	A	exonic	C20orf194	.	nonsynonymous SNV	C20orf194:NM_001009984:exon30:c.C2687T:p.T896M	.	433	1076	11	2	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00706387392754	0.0020	0.000399361	0.0016	0.0001	0.0010	0	0	0.0025	0.0022	0.0010	0.001423	220	154602	rs61734536	0.0010	0.0010	0.0009	0.0011	0.0104	0.0010	0.0009	0.0082	0.0074	0.0004	0.0009	0.0199	7.557e-05	0	0.0104	0.0005	0.0031	0.0009	0.0010	0.0010	0.0012	0.0008	0.0008	0.0009	0.0008	0.0006	0.0006	4.813e-05	0	0.0008	0.0202	0	0	0.0068	0.0008	0.0028	0.0008	0.172	0.22660	T	0.264	0.22761	T	0.005	0.12996	B	0.002	0.06944	B	0.683345	0.10239	N	0.868192	1	0.08975	N	1.155	0.29575	L	2.19	0.18724	T	-1.57	0.37955	N	0.124	0.11626	-1.0246	0.22214	T	0.031	0.13242	T	10	0.002697289	0.00042	T	0.007064	0.18704	T	0.059	0.16972	.	.	0.448498829774	0.44469	0.3119763271510845	0.31110	0.180957177562	0.20352	.	.	.	0.027973	0.20368	T	-0.632024	0.00093	T	-0.739827	0.03897	T	0.0122767947871683	0.00198	T	0.240176	0.03436	T	0.022769598	0.00963	0.07199755	0.15482	0.022769598	0.00963	0.07199755	0.15482	-4.375	0.29216	T	.	.	0.067	0.02370	B	.	.	0.591787	0.09604	6.376	0.93264850271802124	0.22961	0.06461	0.12469	N	AEFBI	0.051133	0.09005	N	-1.41053819242941	0.02545	0.1125367	-1.45039972113467	0.02766	0.1278428	0.020266759278747	0.13241	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.26	-6.97	0.01459	0.092000	0.14905	-1.840000	0.04631	-1.405000	0.01138	0.000000	0.06391	0.000000	0.08366	0.628000	0.32104	0.6024:0.0:0.3976:0.0	14.476	0.67123	376	0.83959	.	.	.	.	.	.	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	0.013265	0.000000	0.012262	0.035294	0.055556	0.025862	0.006250	0.000000	0.05	1291.43	34	chr20	3270526	.	G	A	1291.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.998;DP=386;ExcessHet=0;FS=2.125;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.99;ReadPosRankSum=0.877;SOR=0.424	GT:AD:DP:GQ:PL	0/1:23,53:76:99:1303,0,514	9	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	.	.	.	.	.	.	.	.	0.4375	1195.34	115	chr20	3803192	.	G	C	1195.34	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-1.757;DP=1072;ExcessHet=7.0302;FS=201.816;InbreedingCoeff=-0.6709;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=1.67;SOR=11.816	GT:AD:DP:GQ:PL	0/1:60,36:105:99:158,0,1007	1	0	7	2
chr20	33309740	33309740	G	A	exonic	BPIFB1	.	stopgain	BPIFB1:NM_033197:exon16:c.G1428A:p.W476X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999914	0.19599	N	.	.	.	.	.	.	.	.	.	0.122	0.11340	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336259	0.85584	D	0.245237	0.85395	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.084114	0.96121	35	0.77624367528176408	0.11954	0.10507	0.15995	N	AEFDBI	0.033231	0.03902	N	0.0349615739048139	0.43451	2.637784	-0.329726337576476	0.27143	1.504128	0.0411595688663605	0.14471	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.44	1.41	0.21461	3.733000	0.54753	3.608000	0.39244	0.665000	0.62972	0.165000	0.23867	1.000000	0.68203	0.001000	0.02609	0.1248:0.0:0.6428:0.2324	4.006	0.09089	48	0.97687	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1657.43	33	chr20	33309740	.	G	A	1657.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.202;DP=479;ExcessHet=0;FS=4.544;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=-0.179;SOR=0.417	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,74:170:99:0|1:33309740_G_A:1669,0,2313:33309740	9	0	1	0
chr20	33658831	33658831	T	A	exonic	NECAB3	.	nonsynonymous SNV	NECAB3:NM_031232:exon9:c.A883T:p.I295F,NECAB3:NM_031231:exon10:c.A781T:p.I261F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.0516909097117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.68238	D	0.008	0.67890	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.75	0.80375	M	2.17	0.27822	T	-3.0	0.62630	D	0.812	0.80767	-0.7306	0.58933	T	0.190	0.54153	T	10	0.5581593	0.64636	D	0.051691	0.64767	D	0.376	0.69443	0.462	0.53079	0.467794223868	0.46406	0.6652581009969321	0.66462	1.25061590108	0.81788	0.655222475529	0.60727	T	0.132726	0.46299	T	0.219443	0.75722	D	0.0774387	0.75406	D	0.968389717626287	0.68225	D	0.859414	0.55137	D	0.4797728	0.65887	0.3526925	0.60843	0.4797728	0.65887	0.3526925	0.60842	-10.821	0.79959	D	.	.	0.383	0.58617	A	.;.;.;.	.;.;.;.	4.593112	0.72674	25.9	0.98692196824646428	0.44780	0.92277	0.55342	D	AEFDBHCI	0.686982	0.64848	D	0.547696755695075	0.69941	5.429288	0.478867983571983	0.66592	4.972147	0.999986650713959	0.51787	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.89	4.89	0.63387	4.570000	0.60586	6.192000	0.54780	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:0.0:1.0	13.487	0.60826	115	0.95340	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	566.43	34	chr20	33658831	.	T	A	566.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.644;DP=352;ExcessHet=0;FS=9.953;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.193;SOR=0.107	GT:AD:DP:GQ:PL	0/1:21,24:45:99:578,0,624	9	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	.	.	.	.	.	.	.	.	0.4	2382.99	178	chr20	34852409	.	G	C	2382.99	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.363;DP=1624;ExcessHet=10.3881;FS=297.982;InbreedingCoeff=-0.6669;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=2.05;ReadPosRankSum=1.03;SOR=10.005	GT:AD:DP:GQ:PL	0/1:91,59:150:99:394,0,1351	2	0	8	0
chr20	34999630	34999630	G	C	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon37:c.G4726C:p.E1576Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.640	0.0332701996427	.	.	5.113e-05	0	0	0	0	9.182e-05	0	0	3.88e-05	6	154602	rs763813486	1.3e-05	1.3e-05	1.361e-05	1.238e-05	2.238e-05	8.31e-06	6.7e-06	1.012e-05	8.35e-06	0	2.238e-05	0	0	0	0	1.619e-05	0	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	0.036	0.43393	D	0.108	0.37589	T	.	.	.	.	.	.	0.003391	0.35013	N	0.000000	0.999992	0.58761	D	.	.	.	-1.52	0.81478	D	-2.32	0.51478	N	0.699	0.70351	0.356	0.88427	D	0.648	0.87727	D	10	0.81161964	0.80441	D	0.03327	0.54861	D	0.640	0.86283	.	.	0.886307474639	0.88518	0.3265689002173703	0.32569	0.646230738328	0.58043	0.615639328957	0.55113	T	.	.	.	0.0353059	0.56428	T	-0.00115817	0.70261	D	0.833227097988129	0.48783	D	0.940306	0.77472	D	0.30912417	0.53710	0.36921373	0.62196	0.30912417	0.53710	0.36921373	0.62196	-9.478	0.70722	D	.	.	0.152	0.33619	B	.;.	.;.	4.171687	0.62732	24.5	0.99815018696923374	0.89885	0.98997	0.89729	D	AEFDGBCI	0.929272	0.91477	D	0.766308916861917	0.83963	8.156963	0.706828620172073	0.82897	7.882395	0.999999999954586	0.74766	0.403107	0.06075	0	0.379588	0.06130	0	0.578056	0.29568	0	0.508809	0.08732	0	.	.	4.05	4.05	0.46415	9.989000	0.99212	11.901000	0.99356	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	16.831	0.85808	615	0.66512	Myosin tail;Myosin tail	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	541.43	33	chr20	34999630	.	G	C	541.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=394;ExcessHet=0;FS=6.967;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.33;ReadPosRankSum=2.07;SOR=1.499	GT:AD:DP:GQ:PL	0/1:41,24:65:99:553,0,958	9	0	1	0
chr20	35466182	35466182	G	A	exonic	CEP250	.	nonsynonymous SNV	CEP250:NM_007186:exon7:c.G470A:p.S157N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0195907131719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.91e-07	6.842e-07	1.373e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.672e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.65419	D	0.01	0.72224	D	0.992	0.64738	D	0.948	0.68536	D	0.000307	0.00561	N	3.758110	0.813624	0.28970	N	1.995	0.54099	M	2.85	0.45248	T	-2.39	0.53258	N	0.511	0.54234	-0.7573	0.57551	T	0.292	0.66412	T	10	0.2783443	0.45404	T	0.019591	0.41992	T	0.169	0.43123	0.193	0.10437	0.567064501529	0.56369	0.22593691439536634	0.22508	0.599782747456	0.55084	0.560197114944	0.47296	T	0.036943	0.32516	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.825030370843214	0.48148	D	0.846915	0.53996	T	0.25235692	0.48250	0.25757244	0.51476	0.25235692	0.48250	0.25757244	0.51476	-3.977	0.23458	T	.	.	0.117	0.38190	B	.;.;.;.	.;.;.;.	3.983217	0.58568	24.0	0.99526756370572023	0.69591	0.82463	0.41687	D	AEFDBHCIJ	0.307806	0.41457	N	0.668227390081113	0.77553	6.696854	0.659302106035942	0.79307	7.054434	0.999998318439002	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	2.827000	0.47813	9.971000	0.82862	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.930	0.86057	516	0.74704	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.0625	102.04	83	chr20	35466182	.	G	A	102.04	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-2.649;DP=602;ExcessHet=0;FS=65.711;InbreedingCoeff=-0.129;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.194;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,23:101:99:0|1:35466180_G_A:112,0,2072:35466180	7	0	1	2
chr20	35618119	35618119	C	T	exonic	SPAG4	.	nonsynonymous SNV	SPAG4:NM_001317931:exon5:c.C340T:p.P114S,SPAG4:NM_003116:exon5:c.C571T:p.P191S	.	430	1046	43	3	0	49	0.0228865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0006	0.0105831	0.0054	9.846e-05	0.0009	0.0001	0	0.0009	0.0078	0.0353	0.0047412	733	154602	rs140056855	0.0027	0.0027	0.0017	0.0037	0.0329	0.0026	0.0026	0.0319	0.0315	0.0003	0.0008	0.0021	0.0001	3.744e-05	0.0106	0.0007	0.0033	0.0329	0.0020	0.0020	0.0016	0.0024	0.0397	0.0018	0.0017	0.0351	0.0333	0.0002	0	0.0017	0.0026	0.0008	0	0.0034	0.0008	0.0033	0.0397	0.047	0.50676	D	0.196	0.27943	T	0.483	0.36807	P	0.122	0.32387	B	0.009356	0.30401	N	0.272384	0.543505	0.31393	N	1.87	0.49600	L	2.3	0.21119	T	-0.88	0.28497	N	0.344	0.38541	-1.0369	0.18264	T	0.044	0.18906	T	10	0.002945125	0.00048	T	.	.	.	0.022	0.04323	.	.	0.43965937752	0.43585	0.6364650575286341	0.63580	0.678647379448	0.59893	0.366997569799	0.20400	T	0.023422	0.17879	T	-0.549546	0.00293	T	-0.537094	0.18583	T	0.00899036296490133	0.00112	T	0.775222	0.40690	T	0.0676733	0.14677	0.08424283	0.19364	0.0676733	0.14676	0.08424283	0.19364	-3.227	0.12813	T	.	.	0.130	0.27762	B	.;.	.;.	2.679779	0.34951	19.77	0.9933598505083997	0.59973	0.67838	0.33579	D	AEFDBCI	0.197722	0.32462	N	-0.0592127924215001	0.39192	2.307264	-0.00617359354353439	0.39435	2.338182	0.99999398983417	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.619478	0.44681	0	0.627883	0.49187	0	.	.	4.14	3.2	0.35826	0.996000	0.29320	1.925000	0.29735	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.861000	0.40843	0.0:0.8882:0.0:0.1118	7.767	0.28147	472	0.77968	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.002717	0.005848	0.000000	0.000000	0.006098	0.034091	0.05	823.43	34	chr20	35618119	.	C	T	823.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.78;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=-1.553;SOR=0.718	GT:AD:DP:GQ:PL	0/1:60,37:97:99:835,0,1384	9	0	1	0
chr20	35871784	35871784	C	T	exonic	PHF20	.	nonsynonymous SNV	PHF20:NM_016436:exon9:c.C1237T:p.P413S	.	431	1079	12	0	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00694927272575	0.0018	0.000599042	0.0021	0.0006	0.0016	0	0.0008	0.0027	0	0.0027	0.0019211	297	154602	rs140335933	0.0021	0.0021	0.0021	0.0022	0.0034	0.0021	0.0021	0.0023	0.0023	0.0003	0.0012	0.0015	2.521e-05	0.0007	0.0034	0.0024	0.0019	0.0021	0.0017	0.0017	0.0018	0.0015	0.0031	0.0015	0.0014	0.0025	0.0023	0.0004	0	0.0012	0.0006	0	0.0008	0	0.0028	0.0014	0.0031	0.437	0.09346	T	0.181	0.29346	T	0.01	0.15535	B	0.003	0.08700	B	0.001888	0.37740	N	0.292692	0.999069	0.25002	N	0.66	0.16226	N	1.53	0.44065	T	-1.11	0.28703	N	0.067	0.03956	-1.0360	0.18544	T	0.060	0.25127	T	10	0.003222257	0.00055	T	0.006949	0.18402	T	0.045	0.12272	.	.	0.165150595986	0.16160	0.2653063739811397	0.26443	0.378267525345	0.39244	0.312146902084	0.12232	T	0.014831	0.16353	T	-0.606424	0.00133	T	-0.644383	0.09352	T	0.00281218120764695	0.00029	T	0.649435	0.26018	T	0.02803875	0.02083	0.032952335	0.02112	0.026072677	0.01619	0.032077566	0.01888	-5.219	0.39134	T	.	.	0.074	0.09578	B	.;.;.	.;.;.	-0.093010	0.03683	0.746	0.75157669595966303	0.10967	0.12199	0.17121	N	AEFDGBCI	0.045914	0.07563	N	-1.18060625361538	0.05293	0.2409741	-1.068211244877	0.08332	0.4091928	0.999999965480229	0.74766	0.730579	0.87903	0	0.743671	0.97443	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.56	3.58	0.40133	0.172000	0.16518	0.110000	0.14769	-0.223000	0.07921	0.157000	0.23755	0.005000	0.19230	0.231000	0.22761	0.1396:0.727:0.1334:0.0	11.501	0.49689	482	0.77288	.;.;.	.	.	.	.	.	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	0.004532	0.000000	0.004076	0.002924	0.000000	0.017241	0.006098	0.003788	0.05	698.43	33	chr20	35871784	.	C	T	698.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.151;DP=376;ExcessHet=0;FS=0.959;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=0.491;SOR=0.487	GT:AD:DP:GQ:PL	0/1:36,31:67:99:710,0,886	9	0	1	0
chr20	41162514	41162514	G	A	exonic	PLCG1	.	nonsynonymous SNV	PLCG1:NM_002660:exon5:c.G575A:p.R192H,PLCG1:NM_182811:exon5:c.G575A:p.R192H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.0374315868944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.009	0.66756	D	0.999	0.77913	D	0.886	0.62898	P	0.000001	0.62929	D	0.053454	0.999999	0.58761	D	2.375	0.68372	M	-0.09	0.64086	T	-2.68	0.57275	D	0.746	0.74553	-0.2062	0.77511	T	0.383	0.73899	T	10	0.7169299	0.73408	D	0.037432	0.57615	D	0.253	0.56294	0.394	0.41935	0.62783058892	0.62479	0.36365517737326497	0.36279	.	.	0.844829797745	0.88831	D	0.740999	0.92826	D	0.0359171	0.56509	T	-0.186184	0.55947	T	0.981665074825287	0.74041	D	0.990021	0.96919	D	0.31748208	0.54426	0.21436276	0.45983	0.31748208	0.54426	0.21436276	0.45982	-10.441	0.76508	D	.	.	0.627	0.72173	P	.;.	.;.	5.265790	0.88415	29.6	0.99955013387638114	0.99969	0.96248	0.68218	D	AEFDBCI	0.790789	0.71957	D	0.669830720558076	0.77656	6.717055	0.653445403591647	0.78868	6.963554	0.999999997021225	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.96	4.96	0.65153	6.660000	0.74263	9.867000	0.82099	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.805	0.88508	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1488.43	38	chr20	41162514	.	G	A	1488.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.325;DP=434;ExcessHet=0;FS=2.397;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=1.46;SOR=0.485	GT:AD:DP:GQ:PL	0/1:54,62:116:99:1500,0,1171	9	0	1	0
chr20	46550558	46550558	C	T	exonic	OCSTAMP	.	startloss	OCSTAMP:NM_080721:exon1:c.G3A:p.M1?	.	427	1080	15	0	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.743415468977	0.0009	0.000399361	0.0015	0	0.0073	0	0.0018	0.0008	0	0.0024	0.000414	64	154602	rs201982370	0.0010	0.0010	0.0009	0.0012	0.0072	0.0010	0.0010	0.0055	0.0048	0.0003	0.0004	0	0	0.0001	0.0072	0.0010	0.0014	0.0030	0.0007	0.0007	0.0006	0.0008	0.0017	0.0006	0.0006	0.0010	0.0009	7.214e-05	0.0011	0.0005	0	0	0.0004	0.0102	0.0012	0.0005	0.0017	0.0	0.91255	D	0.0	0.92824	D	0.981	0.59675	D	0.932	0.66722	D	.	.	.	.	1	0.81001	D	.	.	.	0.85	0.47130	T	-0.68	0.19509	N	0.905	0.90590	-0.5239	0.67770	T	0.263	0.63437	T	8	0.05213979	0.05202	T	0.743415	0.97947	D	0.293	0.61272	0.758	0.88730	0.335164054921	0.33125	0.3978455299208361	0.39699	.	.	.	.	.	0.003471	0.02879	T	-0.112038	0.34431	T	0.0638671	0.74502	D	0.152734796077675	0.17319	T	0.9	0.65058	D	0.8784407	0.89539	0.6997496	0.82311	0.8784407	0.89540	0.6997496	0.82312	-8.173	0.62243	D	.	.	.	.	.	.	.	2.151221	0.27404	17.45	0.98501855793267334	0.42228	0.82009	0.41305	D	AEFDBHCI	0.019887	0.00733	N	0.330129444091183	0.57701	3.938492	0.227479204873877	0.51377	3.320807	0.999976488912041	0.50053	0.487112	0.14033	0	0.480063	0.06835	0	0.607795	0.38427	0	0.564101	0.26826	0	.	.	4.14	4.14	0.47821	3.315000	0.51661	5.478000	0.48715	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:1.0:0.0:0.0	12.085	0.52989	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	0.004184	0.005263	0.000000	0.004167	0.000000	0.000000	0.000000	0.009804	0.05	1388.43	33	chr20	46550558	.	C	T	1388.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=460;ExcessHet=0;FS=7.749;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=-0.637;SOR=1.319	GT:AD:DP:GQ:PL	0/1:85,58:143:99:1400,0,2046	9	0	1	0
chr20	59191167	59191167	C	G	exonic	ZNF831	.	nonsynonymous SNV	ZNF831:NM_178457:exon2:c.C148G:p.P50A,ZNF831:NM_001384354:exon4:c.C148G:p.P50A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00108174571408	.	0.000199681	9.226e-06	0	0	0	0	0	0	7.555e-05	1.29e-05	2	154602	rs553290407	1.379e-06	1.368e-06	1.373e-06	1.386e-06	1.169e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.013e-07	0	1.169e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	0	0	0.0002	0.003	0.68238	D	0.052	0.47581	T	0.995	0.67487	D	0.857	0.61067	P	.	.	.	.	1	0.08975	N	2.095	0.58118	M	3.61	0.04446	T	-0.37	0.13226	N	0.13	0.12484	-1.0007	0.29717	T	0.020	0.08220	T	9	0.10628453	0.19688	T	0.001082	0.01263	T	0.080	0.23350	0.264	0.20946	0.473143432122	0.46942	0.2913476755719448	0.29047	0.19954006279	0.22355	0.430277198553	0.29247	T	0.013842	0.11897	T	-0.345586	0.05011	T	-0.551419	0.17190	T	0.240316584706306	0.22434	T	0.212079	0.02586	T	0.060545158	0.12436	0.096809246	0.23017	0.060545158	0.12436	0.096809246	0.23016	-3.552	0.17168	T	.	.	0.088	0.11749	B	.;.	.;.	1.434552	0.18534	13.79	0.96724714058152483	0.30862	0.45393	0.27528	N	AEFDGBI	0.134240	0.25418	N	-0.047424689420145	0.39717	2.346722	-0.117001568193041	0.34704	1.999315	0.0956412790509868	0.16231	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.64	3.72	0.41857	0.467000	0.21747	0.000000	0.13247	0.331000	0.19555	0.060000	0.21767	0.992000	0.31684	0.964000	0.52637	0.1422:0.72:0.0:0.1378	6.685	0.22329	993	0.01300	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	880.43	33	chr20	59191167	.	C	G	880.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.554;DP=384;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=-0.131;SOR=0.818	GT:AD:DP:GQ:PL	0/1:24,35:59:99:892,0,553	9	0	1	0
chr20	62657094	62657094	G	A	exonic	SLCO4A1	.	nonsynonymous SNV	SLCO4A1:NM_016354:exon2:c.G640A:p.A214T	.	424	1097	1	0	0	1	0.000455581	.	.	.	2198865	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.009	0.00802692550285	0.0004	0.000399361	0.0010	0.0004	0.0028	0	0	0.0014	0.0040	0	0.0005563	86	154602	rs184112176	0.0005	0.0005	0.0005	0.0005	0.0049	0.0005	0.0004	0.0035	0.0030	0.0005	0.0016	0.0060	2.566e-05	0	0.0049	0.0003	0.0015	1.176e-05	0.0005	0.0005	0.0005	0.0005	0.0010	0.0004	0.0004	0.0007	0.0005	9.62e-05	0	0.0010	0.0052	0	0	0.0102	0.0004	0.0024	0.0004	0.919	0.02315	T	0.583	0.08419	T	0.002	0.09854	B	0.001	0.04355	B	0.035256	0.01799	N	2.209180	1	0.08975	N	-0.265	0.03777	N	1.14	0.38397	T	-0.37	0.13226	N	0.034	0.01135	-1.0790	0.07543	T	0.028	0.11882	T	10	0.0037004054	0.00068	T	0.008027	0.21290	T	0.009	0.00846	.	.	0.195762928549	0.19159	0.33817801998028374	0.33730	0.210088818001	0.23489	0.304499089718	0.11076	T	0.012	0.10324	T	-0.643519	0.00079	T	-0.727226	0.04454	T	0.00367033094755846	0.00039	T	0.355964	0.08087	T	0.0371178	0.04698	0.03891837	0.03866	0.0371178	0.04698	0.03891837	0.03865	-4.212	0.26925	T	.	.	0.062	0.01290	B	.;.	.;.	-0.524265	0.01791	0.138	0.61967128919049363	0.06842	0.05912	0.11864	N	AEFDBCI	0.056838	0.10539	N	-1.33033427514424	0.03334	0.1487158	-1.37099957839821	0.03564	0.1665207	0.999869856751824	0.44398	0.695654	0.57023	0	0.577304	0.33150	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.43	-3.17	0.04882	-0.568000	0.06000	-4.380000	0.02186	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3723:0.1977:0.3297:0.1003	2.112	0.03481	609	0.67094	Major facilitator superfamily domain|Major facilitator superfamily domain;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	0.006085	0.020619	0.008174	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	1191.43	33	chr20	62657094	.	G	A	1191.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.367;DP=408;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=0.6;SOR=0.744	GT:AD:DP:GQ:PL	0/1:32,46:78:99:1203,0,729	9	0	1	0
chr20	62799019	62799019	G	C	exonic	MRGBP	.	nonsynonymous SNV	MRGBP:NM_018270:exon4:c.G397C:p.D133H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.00656942561252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.112e-06	9.239e-05	6.82e-06	1.378e-06	5.406e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.406e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.014	0.62352	D	0.966	0.56202	D	0.707	0.54387	P	0.000038	0.55875	D	0.156761	0.905299	0.36272	D	0.55	0.14455	N	.	.	.	-2.45	0.53577	N	0.342	0.38335	-0.8202	0.53921	T	0.144	0.46587	T	9	0.23870137	0.40996	T	0.006569	0.17329	T	0.236	0.53931	0.057	0.00169	0.295226631146	0.29124	0.2856974752157873	0.28482	2.39889414524	0.97143	0.718333125114	0.69804	T	0.208334	0.56823	T	0.02167	0.54607	T	-0.206649	0.54014	T	0.848781704902649	0.50061	D	0.815218	0.46991	T	0.19818115	0.41711	0.22453395	0.47369	0.19818115	0.41711	0.22453395	0.47368	-6.063	0.46803	T	.	.	0.494	0.64320	A	.	.	5.092635	0.85052	28.5	0.99431126806434078	0.64276	0.91371	0.53399	D	AEFBCI	0.365257	0.45350	N	0.34964454415198	0.58721	4.046143	0.374962083245602	0.60025	4.185745	0.999999999619889	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.98	3.98	0.45383	3.002000	0.49184	11.386000	0.92637	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	11.864	0.51758	874	0.30607	.	.	.	.	.	.	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	121.05	35	chr20	62799019	.	G	C	121.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.786;DP=732;ExcessHet=0;FS=260.752;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=1.33;SOR=8.086	GT:AD:DP:GQ:PL	0/1:118,56:174:99:132,0,2039	8	0	1	1
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	.	.	.	.	.	.	.	.	0.65	47295.9	284	chr21	13610565	.	G	A	47295.9	.	AC=13;AF=0.65;AN=20;BaseQRankSum=2.78;DP=2483;ExcessHet=1.4371;FS=1.2;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=54;MQRankSum=-7.814;QD=19.88;ReadPosRankSum=-0.068;SOR=0.588	GT:AD:DP:GQ:PL	0/1:151,120:271:99:2950,0,3693	1	4	5	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	0.65	32418.9	248	chr21	13610631	.	A	G	32418.9	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.799;DP=1979;ExcessHet=1.4371;FS=3.455;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=48.5;MQRankSum=-13.96;QD=17.34;ReadPosRankSum=0.791;SOR=0.955	GT:AD:DP:GQ:PL	0/1:122,70:192:99:1581,0,3331	1	4	5	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	.	.	.	.	.	.	.	.	0.7	25747.0	188	chr21	13641414	.	A	G	25747.0	.	AC=14;AF=0.7;AN=20;BaseQRankSum=0.334;DP=1444;ExcessHet=0.6204;FS=0;InbreedingCoeff=0.0476;MLEAC=14;MLEAF=0.7;MQ=58.19;MQRankSum=-1.829;QD=18.7;ReadPosRankSum=-0.493;SOR=0.683	GT:AD:DP:GQ:PL	1/1:0,155:155:99:4387,465,0	1	5	4	0
chr21	28883019	28883019	G	C	exonic	N6AMT1	.	nonsynonymous SNV	N6AMT1:NM_013240:exon2:c.C187G:p.L63V,N6AMT1:NM_182749:exon2:c.C187G:p.L63V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.00891996860619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.374e-06	1.368e-06	1.367e-06	1.381e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.38407	T	0.182	0.29249	T	0.267	0.31683	B	0.344	0.42549	B	0.000001	0.84330	D	0.000000	0.99971	0.48481	D	.	.	.	2.05	0.23884	T	-1.67	0.39887	N	0.269	0.36779	-1.0807	0.07214	T	0.068	0.27980	T	10	0.20549509	0.36778	T	0.00892	0.23511	T	0.136	0.36778	0.605	0.73706	0.202086224978	0.19791	0.7500008193765506	0.74947	0.239248816487	0.26478	0.644442617893	0.59196	T	0.111245	0.42658	T	-0.079276	0.39832	T	-0.351651	0.39015	T	0.84197324514389	0.49489	D	0.875412	0.58680	D	0.60526603	0.72974	0.5888658	0.76149	0.60526603	0.72975	0.5888658	0.76150	-9.033	0.68121	D	.	.	0.169	0.37121	B	.;.	.;.	2.771450	0.36384	20.2	0.99316977462789324	0.59241	0.89172	0.49478	D	AEFGBI	0.392277	0.47039	N	-0.0539261731293429	0.39426	2.324906	0.0466809789711405	0.41912	2.525989	0.999999075343646	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.34	4.45	0.53365	1.334000	0.33433	6.584000	0.56006	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.0802:0.0:0.7645:0.1553	8.181	0.30469	964	0.07719	Methyltransferase small 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	.	.	.	.	.	.	.	.	0.05	575.43	34	chr21	28883019	.	G	C	575.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.849;DP=361;ExcessHet=0;FS=2.471;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=1.08;SOR=1.101	GT:AD:DP:GQ:PL	0/1:20,27:47:99:587,0,534	9	0	1	0
chr21	34142562	34142562	G	A	exonic	MRPS6	.	nonsynonymous SNV	MRPS6:NM_032476:exon3:c.G340A:p.A114T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00136263175261	0.0002	0.000399361	0.0001	0	0.0005	0	0	0.0002	0	0	0.0001294	20	154602	rs144194646	0.0001	0.0001	0.0001	9.548e-05	0.0004	8.966e-05	8.447e-05	0.0001	0.0001	0	0.0003	0.0002	0	1.876e-05	0.0004	0.0001	8.321e-05	0	0.0001	0.0001	0.0001	0.0001	0.0002	7.09e-05	5.746e-05	0.0001	7.897e-05	4.813e-05	0	0.0002	0	0	0	0	0.0002	0	0	0.012	0.54683	D	0.175	0.29945	T	0.368	0.34048	B	0.024	0.20255	B	0.008018	0.31069	U	0.201711	0.999243	0.21461	N	0	0.06538	N	.	.	.	-0.31	0.12099	N	0.139	0.13769	-1.0470	0.15246	T	0.048	0.20474	T	9	0.042699546	0.03045	T	0.001363	0.01961	T	0.062	0.17934	.	.	0.258283824007	0.25425	0.36948550286020254	0.36862	0.0411319730794	0.04411	0.439434826374	0.30500	T	0.014866	0.12575	T	-0.370312	0.03578	T	-0.463727	0.26195	T	0.092785087202824	0.11544	T	0.59504	0.22051	T	0.09823937	0.23170	0.10380659	0.24915	0.09823937	0.23169	0.10380659	0.24914	-4.908	0.35825	T	.	.	0.078	0.06896	B	.	.	3.853675	0.55844	23.7	0.99654432638005097	0.77505	0.91557	0.53779	D	AEFBI	0.711140	0.66468	D	-0.0561075331776499	0.39328	2.317571	0.136347361053265	0.46423	2.889	0.999969972998893	0.48965	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	3.404000	0.52371	9.829000	0.81850	0.618000	0.50648	0.999000	0.42656	1.000000	0.68203	0.883000	0.42306	0.0:0.0:1.0:0.0	17.222	0.86843	404	0.82510	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	886.43	34	chr21	34142562	.	G	A	886.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.71;DP=398;ExcessHet=0;FS=2.799;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=-0.728;SOR=1.042	GT:AD:DP:GQ:PL	0/1:56,38:94:99:898,0,1273	9	0	1	0
chr21	34707978	34707978	A	G	exonic	CLIC6	.	nonsynonymous SNV	CLIC6:NM_053277:exon3:c.A1519G:p.T507A,CLIC6:NM_001317009:exon4:c.A1573G:p.T525A	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0211265738612	0.0009	0.000599042	0.0008	0.0003	0.0016	0	0	0.0010	0.0011	0.0007	0.0007568	117	154602	rs139243173	0.0011	0.0011	0.0011	0.0011	0.0017	0.0011	0.0011	0.0012	0.0012	0.0001	0.0009	3.826e-05	0	0.0002	0.0017	0.0013	0.0009	0.0012	0.0006	0.0006	0.0007	0.0006	0.0025	0.0005	0.0005	0.0014	0.0011	9.623e-05	0	0.0006	0	0	0	0.0034	0.0010	0.0005	0.0025	0.088	0.32296	T	0.055	0.46862	T	0.993	0.65571	D	0.742	0.55764	P	0.000026	0.55875	N	0.155567	0.999992	0.58761	D	0.775	0.19437	N	1.84	0.24656	T	-4.03	0.74348	D	0.245	0.37197	-1.1007	0.04008	T	0.051	0.21533	T	10	0.034312516	0.01635	T	0.021127	0.43850	T	0.213	0.50496	.	.	0.442160178816	0.43838	0.7894766188904496	0.78899	0.267909689989	0.29325	0.674465298653	0.63475	T	0.11274	0.42924	T	-0.415308	0.01834	T	-0.376602	0.36119	T	0.10248014716043	0.12628	T	0.79512	0.43772	T	0.09950454	0.23483	0.16087513	0.37448	0.09950454	0.23483	0.16087513	0.37448	-9.721	0.72224	D	.	.	0.458	0.62621	A	.;.	.;.	2.976203	0.39681	21.0	0.98812437915864837	0.46639	0.92332	0.55467	D	AEFDGBCIJ	0.612170	0.60034	D	0.0106295143422893	0.42338	2.549078	-0.0198506048603544	0.38820	2.292602	0.999999985517809	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.96	2.6	0.30173	5.295000	0.65488	6.174000	0.54533	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.856000	0.40543	0.8542:0.0:0.1458:0.0	9.334	0.37202	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1086.43	48	chr21	34707978	.	A	G	1086.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.733;DP=437;ExcessHet=0;FS=1.977;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=-0.919;SOR=0.489	GT:AD:DP:GQ:PL	0/1:28,44:72:99:1098,0,702	9	0	1	0
chr21	36200470	36200470	G	A	exonic	DOP1B	.	nonsynonymous SNV	DOP1B:NM_001320714:exon4:c.G460A:p.G154S,DOP1B:NM_005128:exon4:c.G460A:p.G154S	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.745	0.0918726912692	.	.	8.394e-06	0	0	0	0	1.52e-05	0	0	6.5e-06	1	154602	rs762797534	5.482e-06	6.156e-06	6.819e-06	4.132e-06	4.647e-05	2.36e-06	1.7e-06	1.585e-05	9.31e-06	0	0	0	2.521e-05	0	0	2.699e-06	0	4.647e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3.5	0.92762	M	1.32	0.35219	T	-5.49	0.85765	D	0.951	0.95956	-0.4797	0.69377	T	0.283	0.65518	T	9	0.95739955	0.95114	D	0.091873	0.75787	D	0.745	0.91198	0.849	0.95143	0.567930657579	0.56458	0.7225848242704457	0.72202	0.722103867686	0.62260	0.737989425659	0.72676	T	0.35969	0.72605	T	0.303291	0.83229	D	0.213366	0.83836	D	0.997385680675507	0.91430	D	0.971503	0.89686	D	0.89659727	0.91081	0.8612076	0.92262	0.89659727	0.91082	0.8612076	0.92262	-8.006	0.61111	D	.	.	0.369	0.57756	A	.	.	5.182189	0.86891	29.1	0.99865267607797581	0.94366	0.95602	0.65379	D	AEFHCI	0.905258	0.85656	D	0.809302949783422	0.86686	8.965226	0.733318709348504	0.84906	8.424852	0.999999999999987	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.42	5.42	0.78666	9.392000	0.96616	11.651000	0.93884	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.722000	0.34836	0.0:0.0:1.0:0.0	18.557	0.91044	858	0.34001	Dopey, 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	.	.	.	.	.	.	.	.	0.05	1149.43	35	chr21	36200470	.	G	A	1149.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=1.02;SOR=0.775	GT:AD:DP:GQ:PL	0/1:37,44:81:99:1161,0,843	9	0	1	0
chr21	39746251	39746251	G	A	exonic	IGSF5	.	stopgain	IGSF5:NM_001080444:exon2:c.G53A:p.W18X	.	1155	365	2	0	0	2	0.00273224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0094	0.00319489	0.0055	0.0015	0.0075	0	0	0.0113	0	0.0025	0.0023027	356	154602	rs117841904	0.0091	0.0080	0.0095	0.0088	0.0120	0.0089	0.0088	0.0117	0.0115	0.0022	0.0060	0.0086	3.115e-05	0.0088	0.0065	0.0120	0.0105	0.0026	0.0077	0.0077	0.0081	0.0072	0.0121	0.0073	0.0072	0.0114	0.0112	0.0023	0.0033	0.0065	0.0075	0	0.0086	0	0.0121	0.0076	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	0.280420	0.14956	U	0.439447	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.044	0.01658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.17327	0.24741	T	-0.00934242	0.69728	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.777094	0.95720	35	0.98464366047307683	0.41780	0.00366	0.01868	N	AEFBI	0.043234	0.06810	N	-0.196852235120097	0.33265	1.885279	-0.612314695892592	0.19177	1.027725	1.15623113809028E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	.	.	.	0.146000	0.16000	0.187000	0.15699	0.148000	0.17689	0.090000	0.22578	0.062000	0.22056	0.106000	0.18562	.	.	.	889	0.27310	.	B3GALT5-AS1|PCP4	Esophagus_Muscularis|Pituitary	.	.	.	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	.	.	.	.	.	.	.	.	0.05	169.67	2	chr21	39746251	.	G	A	169.67	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.66;DP=83;ExcessHet=0;FS=6.264;InbreedingCoeff=-0.0711;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=1.29;SOR=0.061	GT:AD:DP:GQ:PL	0/1:4,7:11:99:181,0,130	9	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	.	.	.	.	.	.	.	.	0.375	749.38	81	chr21	41918930	.	C	G	749.38	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-2.894;DP=915;ExcessHet=4.5998;FS=112.686;InbreedingCoeff=-0.5212;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=1.12;SOR=9.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,14:88:99:0|1:41918930_C_G:210,0,2896:41918930	2	0	6	2
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	.	.	.	.	.	.	.	.	0.2778	740.79	81	chr21	41918931	.	C	G	740.79	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-2.421;DP=897;ExcessHet=2.8389;FS=112.686;InbreedingCoeff=-0.4718;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=0.926;SOR=9.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,14:89:99:0|1:41918930_C_G:207,0,2938:41918930	4	0	5	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	.	.	.	.	.	.	.	.	0.25	759.41	80	chr21	41918933	.	C	G	759.41	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.116;DP=836;ExcessHet=2.8389;FS=113.692;InbreedingCoeff=-0.4246;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=1.05;SOR=9.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,14:88:99:0|1:41918930_C_G:210,0,2904:41918930	5	0	5	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	.	.	.	.	.	.	.	.	0.05	367.16	39	chr21	41918935	.	C	G	367.16	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.384;DP=632;ExcessHet=0.2348;FS=138.574;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=1.04;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,14:88:99:0|1:41918930_C_G:210,0,2904:41918930	9	0	1	0
chr21	44580476	44580476	G	A	exonic	KRTAP10-5	.	nonsynonymous SNV	KRTAP10-5:NM_198694:exon1:c.C103T:p.P35S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00093613202892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.738e-06	3.42e-06	5.449e-06	0	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	0.12754	T	0.877	0.03250	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.08	0.08460	T	-2.15	0.48687	N	0.051	0.02272	-0.9085	0.47037	T	0.014	0.05657	T	9	0.04518804	0.03561	T	9.36E-4	0.00911	T	0.043	0.11576	0.209	0.12639	0.0401082797425	0.02173	0.07066509937605371	0.07003	0.0307842991573	0.03180	0.196288019419	0.00357	T	.	.	.	-0.382541	0.03002	T	-0.78727	0.02241	T	0.15617524087429	0.17584	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.02145	B	.	.	1.321438	0.17257	13.05	0.69578118733403005	0.09017	0.07108	0.13134	N	AEFDBCI	0.030063	0.02955	N	-1.52601500577414	0.01680	0.07351673	-1.58541100874676	0.01744	0.0793321	0.991376545030672	0.32467	0.487112	0.14033	0	0.573888	0.26702	0	0.607795	0.38427	0	0.542086	0.14980	0	.	.	1.96	-0.805	0.10330	-0.384000	0.07447	-5.602000	0.01660	-1.155000	0.01420	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4315:0.0:0.5685:0.0	5.034	0.13763	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	.	.	.	.	.	.	.	.	0.05	1754.43	43	chr21	44580476	.	G	A	1754.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.76;DP=804;ExcessHet=0;FS=1.322;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.89;MQRankSum=-1.096;QD=12.1;ReadPosRankSum=-1.29;SOR=0.55	GT:AD:DP:GQ:PL	0/1:80,65:145:99:1766,0,2203	9	0	1	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	3493.31	299	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	3493.31	.	AC=8;AF=0.444;AN=18;DP=3412;ExcessHet=1.5636;FS=2.538;InbreedingCoeff=-0.0667;MLEAC=9;MLEAF=0.5;MQ=59.94;QD=1.42;SOR=0.538	GT:AD:DP:GQ:PL	0/1:187,135:322:99:4970,0,7133	2	1	6	1
chr21	46283820	46283820	G	A	exonic	MCM3AP	.	nonsynonymous SNV	MCM3AP:NM_003906:exon2:c.C1238T:p.P413L	.	425	1086	11	0	0	11	0.00503894	.	.	.	1284795	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.113	.	0.0003	0.0177716	0.0092	0.0012	0.0007	0.0032	0	4.497e-05	0.0077	0.0638	0.0082017	1268	154602	rs17182566	0.0040	0.0040	0.0024	0.0057	0.0606	0.0039	0.0039	0.0593	0.0587	0.0016	0.0005	3.826e-05	0.0022	0	0.0023	8.099e-05	0.0061	0.0606	0.0033	0.0033	0.0020	0.0046	0.0737	0.0030	0.0029	0.0674	0.0649	0.0015	0	0.0017	0	0.0054	0	0	8.821e-05	0.0099	0.0737	0.004	0.65419	D	0.003	0.76473	D	0.795	0.44777	P	0.095	0.30245	B	0.000018	0.62929	D	0.118770	0.999993	0.08975	N	2.585	0.75554	M	3.66	0.04228	T	-2.28	0.50830	N	0.124	0.12627	-0.9063	0.47297	T	0.009	0.03315	T	10	0.002065301	0.00029	T	.	.	.	0.113	0.31778	.	.	0.134007934775	0.12933	0.5351870173958186	0.53443	0.0676595727789	0.07564	0.444203019142	0.31151	T	0.316252	0.68780	T	-0.597999	0.00150	T	-0.585424	0.14066	T	0.0262718095973514	0.01443	T	0.713829	0.32570	T	0.12150753	0.28572	0.12732299	0.30651	0.12690529	0.29711	0.12732299	0.30651	-4.919	0.35948	T	.	.	0.083	0.09191	B	.;.	.;.	3.537381	0.49663	22.8	0.98798211935288616	0.46413	0.45009	0.27444	N	AEFDBC	0.297975	0.40742	N	-0.0709624492963428	0.38669	2.268441	-0.0533052028531491	0.37348	2.18553	0.99999691295613	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	5.27	3.43	0.38372	4.157000	0.57925	7.103000	0.57542	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.559000	0.30388	0.1256:0.0:0.8744:0.0	12.162	0.53412	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	0	0	1	0	0.010070	0.000000	0.005435	0.005848	0.000000	0.000000	0.003049	0.018939	0.05	1062.43	38	chr21	46283820	.	G	A	1062.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.879;DP=439;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-1.327;SOR=0.656	GT:AD:DP:GQ:PL	0/1:48,42:90:99:1074,0,1219	9	0	1	0
chr21	46663509	46663509	T	G	exonic	PRMT2	.	nonsynonymous SNV	PRMT2:NM_001286676:exon7:c.T781G:p.S261A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0183228474484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.797	0.04104	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.58761	D	.	.	.	-0.5	0.70480	T	-0.92	0.24676	N	0.143	0.14338	-1.0687	0.09701	T	0.114	0.40536	T	7	0.07742116	0.12217	T	0.018323	0.40344	T	0.083	0.24192	0.411	0.44723	0.684796550594	0.68210	.	.	.	.	.	.	.	.	.	.	-0.0150794	0.49552	T	-0.259437	0.48880	T	0.0354677671357309	0.02887	T	0.160284	0.01445	T	.	.	.	.	.	.	.	.	-3.472	0.16042	T	.	.	0.064	0.01738	B	.	.	0.484705	0.08540	5.305	0.87047882955521516	0.16952	0.03385	0.08491	N	AEFDGBI	0.028130	0.02420	N	-1.19980419821022	0.05004	0.227118	-1.3211968955631	0.04157	0.1954755	0.999999999999828	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.15	-10.3	0.00281	-1.092000	0.03476	-2.571000	0.03595	0.665000	0.62972	0.002000	0.15269	0.000000	0.08366	0.883000	0.42306	0.179:0.3128:0.2724:0.2357	1.625	0.02558	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	.	.	.	.	.	.	.	.	0.05	1287.43	35	chr21	46663509	.	T	G	1287.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.984;DP=433;ExcessHet=0;FS=1.467;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=0.54;SOR=0.86	GT:AD:DP:GQ:PL	0/1:63,55:118:99:1299,0,1643	9	0	1	0
chr22	17818742	17818742	T	C	exonic	MICAL3	.	nonsynonymous SNV	MICAL3:NM_015241:exon26:c.A3919G:p.R1307G	.	421	1079	22	0	0	22	0.0100917	.	.	.	2821910	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.111	.	0.0042	0.00239617	0.0070	0.0008	0.0023	0	0.0060	0.0092	0.0036	0.0096	0.0063259	978	154602	rs148613283	0.0062	0.0061	0.0059	0.0064	0.0140	0.0060	0.0060	0.0115	0.0106	0.0008	0.0037	0.0197	0	0.0055	0.0140	0.0061	0.0072	0.0079	0.0047	0.0047	0.0049	0.0045	0.0068	0.0044	0.0043	0.0059	0.0057	0.0011	0.0164	0.0033	0.0173	0	0.0060	0.0102	0.0064	0.0047	0.0068	0.11	0.29158	T	0.402	0.14912	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	0.05	0.61923	T	-1.5	0.36586	N	0.053	0.02462	-1.0258	0.21821	T	0.100	0.37265	T	9	0.0034341514	0.00060	T	.	.	.	0.111	0.31313	.	.	0.110392049598	0.10638	0.15928954186605174	0.15849	0.187826864618	0.21109	0.24967700243	0.03734	T	0.009145	0.08348	T	-0.584683	0.00180	T	-0.602245	0.12624	T	0.00563762928683914	0.00061	T	0.611839	0.23263	T	0.15011574	0.34191	0.16634323	0.38433	0.15011574	0.34190	0.16634323	0.38432	-2.769	0.07901	T	.	.	0.072	0.04436	B	.	.	1.689708	0.21528	15.24	0.93228658380557139	0.22909	0.89311	0.49699	D	AEFDBI	0.262554	0.38027	N	-0.661398927744951	0.17130	0.878795	-0.614906612488756	0.19110	1.023887	0.0406099331030281	0.14447	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	4.54	2.4	0.28568	1.782000	0.38284	0.571000	0.19607	0.665000	0.62972	0.319000	0.25494	0.373000	0.24578	0.017000	0.10941	0.0:0.1689:0.1611:0.6701	4.744	0.12403	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	0.009567	0.025253	0.002717	0.011696	0.000000	0.017241	0.006098	0.007576	0.05	1488.43	35	chr22	17818742	.	T	C	1488.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.049;DP=465;ExcessHet=0;FS=1.405;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=1.85;SOR=0.765	GT:AD:DP:GQ:PL	0/1:62,66:128:99:1500,0,1529	9	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	0.6	25769.9	170	chr22	18925165	.	A	G	25769.9	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.855;DP=1326;ExcessHet=0.0072;FS=0.629;InbreedingCoeff=0.5833;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=21.55;ReadPosRankSum=0.848;SOR=0.79	GT:AD:DP:GQ:PL	0/1:191,85:276:99:1761,0,4824	3	5	2	0
chr22	19275743	19275743	C	A	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon2:c.G130T:p.V44F,CLTCL1:NM_007098:exon2:c.G130T:p.V44F	.	419	1007	92	4	0	100	0.0473037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	.	0.0060	0.00898562	0.0146	0.0007	0.0087	0	0.0031	0.0116	0.0220	0.0497	0.0099675	1541	154602	rs34869740	0.0080	0.0080	0.0068	0.0092	0.0392	0.0078	0.0078	0.0381	0.0376	0.0008	0.0048	0.0224	2.524e-05	0.0020	0.0312	0.0060	0.0091	0.0392	0.0063	0.0063	0.0061	0.0065	0.0357	0.0059	0.0058	0.0313	0.0296	0.0012	0.0110	0.0042	0.0274	0.0004	0.0015	0.0238	0.0076	0.0133	0.0357	0.035	0.52492	D	0.043	0.64786	D	0.177	0.55854	B	0.325	0.65913	B	0.000108	0.50451	D	0.078972	0.998752	0.45389	D	3.3	0.90472	M	0.98	0.42122	T	-2.53	0.66085	D	0.348	0.38950	-0.7526	0.57799	T	0.181	0.52798	T	10	0.0042898357	0.00086	T	.	.	.	0.186	0.46104	.	.	.	.	0.5550606857815419	0.55433	.	.	0.284310281277	0.08101	T	0.300661	0.67314	T	-0.40804	0.02048	T	-0.330329	0.41431	T	0.106590663868295	0.13067	T	0.980535	0.93576	D	0.22724117	0.45421	0.15075435	0.35541	0.14929381	0.34042	0.15075435	0.35541	-9.455	0.70579	D	0.6859370309383997	0.76300	0.171	0.53603	B	.;.;.	.;.;.	1.874624	0.23810	16.16	0.9936751865389698	0.61283	0.88714	0.48774	D	AEFDBI	0.424985	0.48993	N	-0.167350738109467	0.34498	1.969896	-0.316537505401412	0.27563	1.530398	0.999998934083076	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	4.07	1.93	0.24985	3.457000	0.52771	0.694000	0.20791	-0.804000	0.03133	1.000000	0.71638	0.809000	0.27020	0.133000	0.19684	0.1561:0.7604:0.0:0.0836	8.231	0.30759	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	0.027750	0.005102	0.013587	0.038462	0.000000	0.008621	0.051829	0.049242	0.15	3604.45	38	chr22	19275743	.	C	A	3604.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.275;DP=569;ExcessHet=0.7463;FS=3.685;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=1.04;SOR=0.675	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1120,0,1220	7	0	3	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	.	.	.	.	.	.	.	.	0.4	745.45	15	chr22	21216084	.	C	T	745.45	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.13;DP=155;ExcessHet=10.3881;FS=2.76;InbreedingCoeff=-0.7054;MLEAC=8;MLEAF=0.4;MQ=44.76;MQRankSum=-1.805;QD=6.26;ReadPosRankSum=1.17;SOR=0.539	GT:AD:DP:GQ:PL	0/1:7,3:10:75:75,0,160	2	0	8	0
chr22	22893764	22893764	G	A	exonic	IGLL5	.	nonsynonymous SNV	IGLL5:NM_001178126:exon2:c.G271A:p.E91K	.	221	1300	1	0	0	1	0.000384468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0013323200771	.	.	8.536e-06	0	0	0	0	1.533e-05	0	0	3.84e-05	1	26028	rs780170000	8.912e-06	8.893e-06	1.228e-05	5.512e-06	0.0001	4.97e-06	3.83e-06	5.399e-05	4.044e-05	0	0	0	0	0	0	2.703e-06	1.662e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	0.07163	T	0.858	0.03428	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.11	0.08516	N	6.6	0.00518	T	0.03	0.06612	N	0.162	0.17140	-1.0008	0.29688	T	0.001	0.00255	T	9	0.064441204	0.08546	T	0.001332	0.01885	T	0.088	0.25558	0.528	0.63412	0.0138822411134	0.00435	0.3248549572680669	0.32398	.	.	.	.	.	0.007097	0.10324	T	-0.230114	0.16634	T	-0.568319	0.15603	T	0.0219013190740585	0.00898	T	0.329867	0.06895	T	0.025624841	0.01522	0.043898933	0.05568	0.025624841	0.01522	0.043898933	0.05567	-3.71	0.19466	T	.	.	0.095	0.19478	B	.;.	.;.	0.862627	0.12349	8.890	0.6371960184901353	0.07299	0.06386	0.12388	N	AEFDGBHCI	0.064658	0.12568	N	-1.53081958122469	0.01650	0.07217557	-1.55712885552432	0.01927	0.08793651	0.999261986527133	0.38940	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.39	-2.76	0.05547	0.183000	0.16729	-2.542000	0.03629	-2.652000	0.00222	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.4532:0.1799:0.3669:0.0	4.124	0.09587	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	.	.	.	.	.	.	.	.	0.05	2402.43	40	chr22	22893764	.	G	A	2402.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.327;DP=550;ExcessHet=0;FS=2.988;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-0.225;SOR=0.919	GT:AD:DP:GQ:PL	0/1:120,106:226:99:2414,0,3028	9	0	1	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3559.91	73	chr22	23311788	.	T	TCCGG	3559.91	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.584;DP=874;ExcessHet=7.0302;FS=18.299;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=55.4;MQRankSum=-7.428;QD=5.06;ReadPosRankSum=0.133;SOR=1.82	GT:AD:DP:GQ:PL	0/1:93,12:105:99:224,0,3849	3	0	7	0
chr22	25768548	25768548	C	T	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon4:c.C632T:p.P211L,MYO18B:NM_032608:exon4:c.C632T:p.P211L	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	420	1101	1	0	0	1	0.000453926	.	.	.	1423851	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.149	0.0410908211033	.	.	2.205e-05	0	0.0001	0	0	1.854e-05	0	0	1.29e-05	2	154602	rs764257264	1.365e-05	1.436e-05	1.557e-05	1.166e-05	6.455e-05	8.73e-06	7.03e-06	1.069e-05	6.6e-06	6.455e-05	0	0	0	0	0	1.387e-05	3.487e-05	0	6.583e-06	6.568e-06	1.287e-05	0	6.547e-05	0	0	.	.	0	0	6.547e-05	0	0	0	0	0	0	0	0.175	0.22400	T	0.152	0.32249	T	0.001	0.07471	B	0.001	0.04355	B	0.587888	0.05574	N	1.300310	1	0.08975	N	0.975	0.24501	L	-2.13	0.86481	D	-1.97	0.45587	N	0.091	0.07673	-0.8024	0.55003	T	0.340	0.70640	T	10	0.059815794	0.07250	T	0.041091	0.59735	D	0.149	0.39377	.	.	0.55350970329	0.55009	0.05915908334816703	0.05855	0.0670969358633	0.07497	0.237263262272	0.02549	T	0.041528	0.25887	T	-0.178219	0.24000	T	-0.493776	0.22995	T	0.056632458768991	0.06628	T	0.642236	0.25428	T	0.031141577	0.02900	0.04054467	0.04406	0.031141577	0.02900	0.04054467	0.04405	-4.577	0.31882	T	.	.	0.077	0.17146	B	.;.;.	.;.;.	0.627693	0.09959	6.717	0.59948464685036373	0.06345	0.01934	0.05894	N	AEFBI	0.058258	0.10917	N	-1.22357390031165	0.04660	0.2107868	-1.25495687725636	0.05058	0.240115	0.992643723146123	0.32916	0.553676	0.25195	0	0.547309	0.14657	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	3.72	-2.12	0.06766	-0.174000	0.09830	-3.471000	0.02762	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.3338:0.4469:0.0:0.2193	4.546	0.11480	982	0.03397	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	697.43	38	chr22	25768548	.	C	T	697.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.46;DP=426;ExcessHet=0;FS=4.763;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=0.035;SOR=1.266	GT:AD:DP:GQ:PL	0/1:42,29:71:99:709,0,842	9	0	1	0
chr22	26472896	26472896	C	T	exonic	HPS4	.	nonsynonymous SNV	HPS4:NM_152841:exon3:c.G305A:p.R102Q,HPS4:NM_001349896:exon5:c.G320A:p.R107Q,HPS4:NM_001349899:exon5:c.G320A:p.R107Q,HPS4:NM_001349900:exon5:c.G320A:p.R107Q,HPS4:NM_001349901:exon5:c.G320A:p.R107Q,HPS4:NM_001349902:exon5:c.G320A:p.R107Q,HPS4:NM_001349903:exon5:c.G320A:p.R107Q,HPS4:NM_001349904:exon5:c.G320A:p.R107Q,HPS4:NM_001349905:exon5:c.G320A:p.R107Q,HPS4:NM_022081:exon5:c.G320A:p.R107Q,HPS4:NM_001349898:exon6:c.G320A:p.R107Q	Hermansky-Pudlak syndrome 4	0	225	1	0	0	1	0.00221729	.	.	.	1496551	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.222	0.030594940404	.	.	9.073e-05	0.0005	0	0	0	1.5e-05	0	0.0003	7.12e-05	11	154602	rs138885334	2.941e-05	2.941e-05	2.722e-05	3.163e-05	0.0003	2.216e-05	1.97e-05	0.0002	0.0002	0.0003	0	3.826e-05	0	0	0	1.799e-06	0	0.0003	7.879e-05	7.874e-05	7.708e-05	8.058e-05	0.0004	4.493e-05	3.51e-05	0.0001	8.431e-05	0.0002	0	0	0	0.0002	0	0	0	0	0.0004	0.804	0.03244	T	1.0	0.01155	T	0.015	0.17086	B	0.005	0.11217	B	0.340632	0.13969	N	0.713260	1	0.08975	N	-0.63	0.02141	N	-2.5	0.89219	D	0.06	0.06253	N	0.187	0.20395	-0.8001	0.55139	T	0.290	0.66192	T	10	0.025896043	0.00770	T	0.030595	0.52874	D	0.222	0.51872	.	.	0.413113201963	0.40925	0.13032444309316935	0.12957	0.0497487252383	0.05457	0.193119958043	0.00285	T	0.112777	0.42931	T	-0.251769	0.13882	T	-0.293449	0.45413	T	0.00782777089625597	0.00092	T	0.823018	0.53499	T	0.025390426	0.01472	0.04204029	0.04915	0.025390426	0.01472	0.04204029	0.04914	-6.667	0.51561	T	.	.	0.063	0.04041	B	.;.;.;.	.;.;.;.	1.784317	0.22686	15.72	0.50039488949088673	0.04314	0.03972	0.09383	N	AEFGBI	0.026986	0.02126	N	-1.15262201165808	0.05737	0.2623213	-1.01437155200594	0.09468	0.4712618	0.999909670550041	0.45458	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.3	-0.891	0.10038	1.115000	0.30823	0.054000	0.14040	-0.773000	0.03420	0.830000	0.30133	0.066000	0.22130	0.922000	0.45779	0.0:0.2587:0.0:0.7413	11.425	0.49245	975	0.05339	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1111.43	34	chr22	26472896	.	C	T	1111.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.8;DP=408;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.369;SOR=0.733	GT:AD:DP:GQ:PL	0/1:45,46:91:99:1123,0,1006	9	0	1	0
chr22	37690718	37690718	G	A	exonic	NOL12	.	nonsynonymous SNV	NOL12:NM_024313:exon5:c.G403A:p.E135K	.	422	1086	13	1	0	15	0.00685871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0155113613445	0.0005	0.000798722	0.0015	9.612e-05	0.0006	0	0	0.0003	0.0011	0.0095	0.0012807	198	154602	rs145024039	0.0009	0.0009	0.0006	0.0012	0.0102	0.0008	0.0008	0.0096	0.0094	2.987e-05	0.0011	0.0006	0	0	0.0069	0.0002	0.0011	0.0102	0.0005	0.0005	0.0004	0.0007	0.0068	0.0004	0.0004	0.0050	0.0044	4.811e-05	0	0.0012	0.0003	0	0	0	0.0003	0.0028	0.0068	0.226	0.18562	T	0.177	0.29740	T	0.001	0.07471	B	0.007	0.12992	B	0.034120	0.24812	N	0.473753	0.999662	0.48141	D	0.665	0.16292	N	-1.58	0.81987	D	-2.17	0.49018	N	0.183	0.24010	-0.6489	0.62762	T	0.379	0.73617	T	10	0.008024216	0.00182	T	0.015511	0.36282	T	0.184	0.45763	.	.	0.817218031774	0.81549	0.1844012022333423	0.18359	0.205769546886	0.22999	0.308107256889	0.11621	T	0.136981	0.46967	T	-0.384245	0.02928	T	-0.317469	0.42853	T	0.0128320111089835	0.00219	T	0.756224	0.37950	T	0.032080587	0.03167	0.07723831	0.17185	0.032080587	0.03167	0.07723831	0.17185	-4.832	0.34962	T	.	.	0.065	0.01884	B	.;.	.;.	1.690263	0.21535	15.24	0.97801011383678182	0.36065	0.74321	0.36356	D	AEFDBI	0.099683	0.20061	N	-0.44344244901885	0.23963	1.290566	-0.374349883680045	0.25765	1.418876	0.999968973121682	0.48965	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.63	1.82	0.24209	2.056000	0.40981	1.525000	0.27119	0.676000	0.76740	0.995000	0.38783	0.993000	0.31925	0.032000	0.13371	0.1094:0.1536:0.7369:0.0	7.526	0.26824	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	0.003525	0.000000	0.001359	0.000000	0.000000	0.017241	0.003049	0.007576	0.05	1419.43	40	chr22	37690718	.	G	A	1419.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.89;DP=437;ExcessHet=0;FS=5.555;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=1.1;SOR=1.103	GT:AD:DP:GQ:PL	0/1:61,59:120:99:1431,0,1394	9	0	1	0
chr22	37726466	37726466	C	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.C3910A:p.R1304S	Deafness, autosomal recessive 28, Autosomal recessive	12	1503	6	0	1	7	0.00199203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0630658994067	.	.	.	.	.	.	.	.	.	.	.	.	.	rs550274094	2.143e-06	5.472e-06	0	4.334e-06	0.0002	5.7e-07	1.6e-07	.	.	0	0	0	0	0	0.0002	0	1.719e-05	1.241e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	6.823e-05	2.855e-05	0	0	0	0	0.0004	0	0	0	0	0	0.0	0.91255	D	0.288	0.21144	T	1.0	0.90584	D	0.967	0.71530	D	.	.	.	.	0.667469	0.33110	D	1.04	0.26193	L	0.28	0.59037	T	-2.85	0.60029	D	0.652	0.66272	-0.7008	0.60400	T	0.252	0.62223	T	9	0.53869605	0.63595	D	0.063066	0.68850	D	0.248	0.55615	.	.	0.739818014902	0.73748	0.30916848207918823	0.30829	0.386630532738	0.39955	0.733280956745	0.71986	T	0.231116	0.59735	T	-0.125418	0.32240	T	-0.202596	0.54400	T	0.66301017999649	0.39028	D	0.738026	0.35555	T	0.506153	0.67455	0.45054185	0.68025	0.506153	0.67456	0.45054185	0.68025	-6.34	0.49039	T	.	.	0.891	0.82188	P	.;.	.;.	3.964497	0.58165	23.9	0.99811766037908878	0.89531	0.84548	0.43631	D	AEFDBI	0.436405	0.49664	N	0.411215872464132	0.62037	4.413393	0.426874021853534	0.63244	4.554486	0.999992995891553	0.74766	0.634777	0.41761	0	0.61073	0.52368	0	0.643519	0.47002	0	0.584449	0.35598	0	.	.	5.07	5.07	0.68106	2.322000	0.43474	3.929000	0.40522	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.643000	0.32503	0.0:1.0:0.0:0.0	16.290	0.82575	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	0	0	0	0	0.001021	0.000000	0.002732	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	285.43	24	chr22	37726466	.	C	A	285.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.977;DP=208;ExcessHet=0;FS=1.485;InbreedingCoeff=-0.0531;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-0.306;SOR=0.4	GT:AD:DP:GQ:PL	0/1:15,14:29:99:297,0,347	9	0	1	0
chr22	38474565	38474565	C	G	exonic	KDELR3	.	nonsynonymous SNV	KDELR3:NM_006855:exon2:c.C134G:p.T45S,KDELR3:NM_016657:exon2:c.C134G:p.T45S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0150566900736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.38633	T	0.079	0.42086	T	0.087	0.24971	B	0.081	0.29521	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	0.96	0.43279	T	-2.61	0.56466	D	0.723	0.72567	-0.9911	0.32321	T	0.115	0.40808	T	10	0.5921849	0.66442	D	0.015057	0.35570	T	0.206	0.49396	0.535	0.64439	0.563432924419	0.56005	0.5362329687764102	0.53548	0.172976115961	0.19485	0.718571424484	0.69839	T	0.048711	0.28096	T	0.0682807	0.60639	T	-0.139696	0.60145	T	0.954832136631012	0.64360	D	0.909209	0.67884	D	0.37715387	0.59110	0.30954057	0.56968	0.37715387	0.59110	0.30954057	0.56967	-4.403	0.29598	T	.	.	0.169	0.39408	B	.;.	.;.	3.487442	0.48728	22.7	0.99268119735971039	0.57457	0.98892	0.88252	D	AEFDBI	0.941372	0.94455	D	0.101124488174029	0.46514	2.890701	0.239387150744312	0.52048	3.382379	0.999999999975655	0.74766	0.706548	0.73137	0	0.60822	0.50512	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.55	4.55	0.55429	7.879000	0.85694	4.817000	0.45088	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:1.0:0.0:0.0	17.498	0.87618	680	0.59965	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	994.43	34	chr22	38474565	.	C	G	994.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.3;DP=403;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.604;SOR=0.697	GT:AD:DP:GQ:PL	0/1:49,38:87:99:1006,0,1245	9	0	1	0
chr22	39031824	39031824	G	T	exonic	APOBEC3D	.	nonsynonymous SNV	APOBEC3D:NM_001363781:exon3:c.G341T:p.G114V,APOBEC3D:NM_152426:exon6:c.G893T:p.G298V	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0324937952481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.209e-06	8.209e-06	5.445e-06	1.1e-05	0.0005	4.38e-06	3.46e-06	0.0001	7.544e-05	0	0	0	0	0	0.0005	5.396e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.153	0.32144	T	0.997	0.70673	D	0.955	0.69585	D	.	.	.	.	1	0.08975	N	2.105	0.58435	M	-0.09	0.64086	T	-3.09	0.65742	D	0.173	0.18512	-0.8063	0.54772	T	0.279	0.65068	T	9	0.16435307	0.30750	T	0.032494	0.54307	D	0.115	0.32236	0.46	0.52753	0.298056030225	0.29408	0.09466985776421802	0.09398	0.887394481255	0.70061	0.213677242398	0.00977	T	0.129594	0.45796	T	-0.180121	0.23716	T	-0.496508	0.22710	T	0.500771343708038	0.32657	D	0.531747	0.17685	T	0.12241637	0.28766	0.10363549	0.24870	0.12241637	0.28766	0.10363549	0.24869	-4.613	0.32335	T	.	.	0.168	0.37482	B	.;.;.;.	.;.;.;.	-0.026534	0.04101	0.967	0.95022929075127416	0.26008	0.01058	0.03933	N	AEFGBI	0.083356	0.16887	N	-0.706052876794826	0.15851	0.8025349	-0.979017599329552	0.10257	0.5154352	0.982264842244097	0.30375	0.634777	0.41761	0	0.643519	0.57511	0	0.601644	0.32324	0	0.655142	0.61905	0	.	.	1.84	-1.76	0.07574	-0.456000	0.06829	-4.065000	0.02363	-0.320000	0.05874	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5978:0.0:0.4022:0.0	5.176	0.14462	350	0.85473	.;APOBEC-like, N-terminal|APOBEC/CMP deaminase, zinc-binding|Cytidine and deoxycytidylate deaminase domain;APOBEC-like, N-terminal|APOBEC/CMP deaminase, zinc-binding|Cytidine and deoxycytidylate deaminase domain;APOBEC-like, N-terminal|APOBEC/CMP deaminase, zinc-binding|Cytidine and deoxycytidylate deaminase 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	.	.	.	.	.	.	.	.	0.05	3565.43	34	chr22	39031824	.	G	T	3565.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.901;DP=587;ExcessHet=0;FS=0.932;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.57;MQRankSum=0.014;QD=13.3;ReadPosRankSum=-0.831;SOR=0.783	GT:AD:DP:GQ:PL	0/1:131,137:268:99:3577,0,3481	9	0	1	0
chr22	39043062	39043062	G	C	exonic	APOBEC3F	.	nonsynonymous SNV	APOBEC3F:NM_001006666:exon2:c.G143C:p.R48P,APOBEC3F:NM_145298:exon2:c.G143C:p.R48P	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0008	0.0101837	0.0025	0.0212	0.0018	0.0002	0	0.0004	0	0.0023	0.0030352	79	26028	rs35053197	0.0012	0.0015	0.0013	0.0012	0.0255	0.0012	0.0012	0.0241	0.0235	0.0255	0.0026	0.0001	0.0001	0	0.0021	0.0005	0.0021	0.0019	0.0088	0.0089	0.0090	0.0085	0.0288	0.0084	0.0082	0.0275	0.0269	0.0288	0	0.0048	0	0.0004	0	0	0.0006	0.0057	0.0021	1.0	0.05567	T	0.604	0.11551	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.645	0.00393	N	0.09	0.61443	T	2.38	0.00266	N	0.069	0.05670	-1.0857	0.06281	T	0.025	0.10643	T	9	0.0034030378	0.00060	T	.	.	.	0.048	0.13305	.	.	0.137902524267	0.13322	0.5381786369226277	0.53742	0.5166844113	0.49556	0.315591454506	0.12754	T	0.001673	0.01102	T	-0.258157	0.13117	T	-0.608601	0.12099	T	0.00348881894533622	0.00037	T	0.460954	0.20620	T	0.17501996	0.38337	0.09503999	0.22522	0.17501996	0.38337	0.09503999	0.22522	-3.741	0.19925	T	.	.	0.068	0.02765	B	.;.	.;.	-0.858469	0.00998	0.040	0.35880786322282848	0.02277	0.00008	0.00134	N	AEFGBI	0.010635	0.00079	N	-1.90318807659781	0.00338	0.01452353	-1.95974569447857	0.00371	0.01640468	0.998976998915207	0.38110	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	1.14	-2.28	0.06438	-1.252000	0.02990	-2.949000	0.03201	-1.133000	0.01453	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1993:0.2767:0.2:0.324	0.275	0.00219	344	0.85734	APOBEC-like, N-terminal|Cytidine and deoxycytidylate deaminase 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	0.007455	0.010204	0.009537	0.008197	0.000000	0.017241	0.003086	0.007634	0.05	469.43	36	chr22	39043062	.	G	C	469.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=7.05;DP=482;ExcessHet=0;FS=2.818;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.19;MQRankSum=-8.201;QD=2.78;ReadPosRankSum=1.94;SOR=1.044	GT:AD:DP:GQ:PL	0/1:142,27:169:99:481,0,3628	9	0	1	0
chr22	39487401	39487401	C	G	exonic	MGAT3	.	nonsynonymous SNV	MGAT3:NM_001098270:exon1:c.C54G:p.C18W,MGAT3:NM_002409:exon2:c.C54G:p.C18W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467	0.00928000961584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.053e-05	0.0007	6.065e-05	4.032e-05	0.0002	4.107e-05	3.778e-05	7.907e-05	5.367e-05	0.0002	0	0	2.526e-05	1.888e-05	0	5.279e-05	8.352e-05	2.351e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.999999	0.58761	D	1.04	0.26193	L	.	.	.	-2.82	0.98918	D	0.891	0.89020	-0.6091	0.64441	T	0.254	0.62417	T	9	0.9666564	0.96163	D	0.00928	0.24366	T	0.467	0.76222	0.891	0.97367	0.427940940899	0.42412	0.9367500656120937	0.93655	2.60696827796	0.98215	0.840098500252	0.88110	D	0.721539	0.92134	D	0.344	0.86089	D	0.256068	0.85906	D	0.962799787521362	0.66471	D	0.887111	0.61484	D	0.7679175	0.81923	0.73513645	0.84346	0.7679175	0.81924	0.73513645	0.84347	-6.473	0.50078	T	.	.	0.914	0.93695	P	.;.;.	.;.;.	3.752512	0.53796	23.4	0.99322247773775674	0.59431	0.91717	0.54114	D	AEFDBCI	0.909483	0.86618	D	0.365176442442986	0.59547	4.134862	0.35561719820587	0.58846	4.057947	0.999785587597136	0.43007	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.15	4.14	0.47821	1.635000	0.36747	1.717000	0.28234	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.845:0.0:0.155	9.950	0.40802	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	.	.	.	.	.	.	.	.	0.08333	38.37	69	chr22	39487401	.	C	G	38.37	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.804;DP=833;ExcessHet=0;FS=60.063;InbreedingCoeff=-0.1767;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=0.343;SOR=5.417	GT:AD:DP:GQ:PL	0/1:90,11:104:47:47,0,2542	5	0	1	4
chr22	39487402	39487402	C	T	exonic	MGAT3	.	nonsynonymous SNV	MGAT3:NM_001098270:exon1:c.C55T:p.L19F,MGAT3:NM_002409:exon2:c.C55T:p.L19F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00225134861256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.51853	D	0.032	0.92824	D	0.981	0.59675	D	0.617	0.51308	P	0.000129	0.49741	D	0.078023	0.998146	0.44558	D	0.805	0.20218	L	.	.	.	-0.98	0.62343	N	0.325	0.36569	-0.8478	0.52120	T	0.148	0.47451	T	9	0.3317296	0.50390	T	0.002251	0.04287	T	0.132	0.35948	0.308	0.27967	0.265929055128	0.26215	0.6870414125027167	0.68644	1.20213456134	0.80570	0.743240952492	0.73449	T	0.227817	0.59320	T	0.032352	0.56037	T	-0.191305	0.55468	T	0.788089334964752	0.45565	D	0.828317	0.49240	T	0.17247206	0.37940	0.14032614	0.33453	0.17247206	0.37940	0.14032614	0.33452	-4.246	0.27412	T	.	.	0.099	0.71346	B	.;.;.	.;.;.	3.240580	0.44233	21.9	0.98664390496305698	0.44372	0.93304	0.57859	D	AEFDBCI	0.842683	0.75978	D	0.417591785815999	0.62390	4.454057	0.478240209882256	0.66549	4.966743	0.999999884736667	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.15	5.15	0.70287	4.720000	0.61636	7.504000	0.59526	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8512:0.1488:0.0	14.273	0.65712	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	.	.	.	.	.	.	.	.	0.0625	64.73	36	chr22	39487402	.	C	T	64.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-2.383;DP=604;ExcessHet=0;FS=81.914;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=0.283;SOR=6.09	GT:AD:DP:GQ:PL	0/1:90,20:110:75:75,0,2541	7	0	1	2
chr22	39488527	39488527	C	G	exonic	MGAT3	.	nonsynonymous SNV	MGAT3:NM_001098270:exon1:c.C1180G:p.Q394E,MGAT3:NM_002409:exon2:c.C1180G:p.Q394E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0020343775265	.	.	8.367e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs566293253	1.095e-05	1.094e-05	1.226e-05	9.631e-06	0.0003	6.48e-06	5.25e-06	0.0002	0.0001	0	0	0	0.0003	0	0.0003	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549	0.06606	T	0.965	0.02516	T	0.002	0.09854	B	0.002	0.06944	B	0.000147	0.49130	D	0.138597	0.574709	0.32323	D	0.685	0.16464	N	.	.	.	0.14	0.05405	N	0.239	0.26957	-1.0042	0.28696	T	0.081	0.32119	T	9	0.2754413	0.45103	T	0.002034	0.03695	T	0.056	0.15993	0.635	0.77142	0.261217442401	0.25729	0.8760049446827185	0.87567	1.18081421564	0.80015	0.600806057453	0.53018	T	0.22298	0.58699	T	-0.328594	0.06218	T	-0.445351	0.28210	T	0.0672730067747869	0.08263	T	0.857714	0.54741	D	0.123945855	0.29092	0.12373317	0.29832	0.123945855	0.29092	0.12373317	0.29831	-4.027	0.24206	T	.	.	0.071	0.03698	B	.	.	2.122461	0.27015	17.32	0.82860752655228309	0.14414	0.85408	0.44538	D	AEFDBCI	0.452129	0.50582	N	-0.42653382799965	0.24543	1.325932	-0.210570395257627	0.31154	1.76056	0.999999875414773	0.74766	0.700653	0.57754	0	0.702456	0.74545	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	5.37	4.33	0.51083	3.605000	0.53839	5.929000	0.51288	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.981000	0.58702	0.0:0.8669:0.1331:0.0	16.203	0.81921	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1694.43	36	chr22	39488527	.	C	G	1694.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.47;DP=488;ExcessHet=0;FS=0.632;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-1.924;SOR=0.708	GT:AD:DP:GQ:PL	0/1:74,64:138:99:1706,0,1958	9	0	1	0
chr22	41926277	41926277	C	A	exonic	TNFRSF13C	.	nonsynonymous SNV	TNFRSF13C:NM_052945:exon2:c.G191T:p.G64V	Immunodeficiency, common variable, 4, Autosomal recessive	14	1482	25	1	0	27	0.00902708	.	.	.	433978	not_provided|Immunodeficiency,_common_variable,_4	MedGen:C3661900|MONDO:MONDO:0013284,MedGen:C3150739,OMIM:613494,Orphanet:1572	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.030	.	.	0.00199681	0.0072	0.0045	0	0	0.0385	0.0190	0.0111	0.0031	0.0015524	240	154602	rs547352394	0.0107	0.0100	0.0109	0.0105	0.0180	0.0106	0.0105	0.0148	0.0136	0.0026	0.0029	0.0081	0	0.0112	0.0180	0.0121	0.0085	0.0024	0.0071	0.0071	0.0077	0.0065	0.0119	0.0068	0.0066	0.0112	0.0110	0.0019	0.0296	0.0020	0.0086	0.0002	0.0059	0.0548	0.0119	0.0076	0.0021	0.059	0.37536	T	0.007	0.69154	D	0.011	0.15914	B	0.008	0.13708	B	0.716831	0.06290	N	1.197160	0.99991	0.19694	N	1.795	0.47270	L	1.54	0.30133	T	-5.08	0.82896	D	0.329	0.36989	-1.0025	0.29197	T	0.046	0.19559	T	10	0.0050999224	0.00110	T	.	.	.	0.030	0.07022	.	.	0.043077524339	0.03247	0.21823140091659454	0.21739	2.12773366393	0.95105	0.886562466621	0.94825	D	0.436239	0.78270	T	-0.611609	0.00124	T	-0.638987	0.09743	T	0.0436186475804897	0.04351	T	0.466353	0.13696	T	0.24082784	0.46990	0.2816598	0.54149	0.24082784	0.46990	0.2816598	0.54148	-4.531	0.31292	T	.	.	0.176	0.38534	B	.	.	3.422904	0.47532	22.5	0.98457614893853174	0.41699	0.48203	0.28154	N	ALL	0.068657	0.13554	N	-0.818823518578959	0.12829	0.6279373	-0.812902956999267	0.14183	0.7397709	0.999999999999692	0.74766	0.623204	0.39778	0	0.52208	0.09955	0	0.378051	0.06126	2	0.603991	0.37454	0	.	.	3.16	0.969	0.18805	0.300000	0.18911	2.272000	0.31837	0.446000	0.21189	0.000000	0.06391	0.387000	0.24645	0.189000	0.21571	0.2398:0.6279:0.0:0.1322	3.756	0.08111	130	0.94779	.	RP1-257I20.14|NDUFA6|NDUFA6|NDUFA6|NDUFA6|NDUFA6|NDUFA6|NDUFA6|NDUFA6|TNFRSF13C|NDUFA6|NDUFA6|NDUFA6|TNFRSF13C|NDUFA6	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Colon_Sigmoid|Colon_Transverse|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood|Whole_Blood	.	.	.	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	0.020394	0.005435	0.027363	0.044643	0.000000	0.040541	0.003788	0.020202	0.05	582.43	31	chr22	41926277	.	C	A	582.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.363;DP=224;ExcessHet=0;FS=1.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.57;ReadPosRankSum=0.391;SOR=0.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,15:27:99:0|1:41926276_G_A:594,0,458:41926276	9	0	1	0
chr22	42693749	42693749	G	A	exonic	A4GALT	.	nonsynonymous SNV	A4GALT:NM_001318038:exon3:c.C203T:p.T68I,A4GALT:NM_017436:exon3:c.C203T:p.T68I	NOR polyagglutination syndrome	434	1084	4	0	0	4	0.00184162	.	.	.	3047892	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.139	0.0349490304366	0.0002	.	0.0002	0.0001	0	0	0	5.461e-05	0	0.0011	0.0001358	21	154602	rs138624393	0.0001	0.0001	4.369e-05	0.0002	0.0014	9.013e-05	8.495e-05	0.0012	0.0011	0	2.247e-05	0	0	0	0.0007	1.442e-05	0.0002	0.0014	6.649e-05	6.59e-05	5.19e-05	8.183e-05	0.0006	3.556e-05	2.745e-05	0.0002	9.146e-05	2.444e-05	0	0.0002	0	0	0	0.0034	2.962e-05	0	0.0006	0.263	0.16412	T	0.158	0.31629	T	0.0	0.02946	B	0.0	0.01387	B	0.001503	0.00793	N	14.057900	1	0.08975	N	0.205	0.09354	N	-1.32	0.79761	T	-0.7	0.19933	N	0.12	0.11340	-0.9043	0.47527	T	0.213	0.57361	T	10	0.014195502	0.00299	T	0.034949	0.56019	D	0.139	0.37390	.	.	0.374970422459	0.37104	0.20409890434069342	0.20326	0.355704073165	0.37328	0.244355797768	0.03197	T	0.211447	0.57222	T	-0.452129	0.01097	T	-0.462762	0.26298	T	0.025397695315313	0.01324	T	0.282772	0.04965	T	0.030589743	0.02750	0.020435588	0.00136	0.030589743	0.02750	0.020435588	0.00136	-4.961	0.36414	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	-0.195260	0.03114	0.496	0.20128296514327737	0.00710	0.06922	0.12948	N	AEFDBI	0.079287	0.16012	N	-1.57322005863349	0.01404	0.06120057	-1.68757035226395	0.01193	0.05371005	0.999999997379293	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.55	-9.1	0.00610	0.495000	0.22191	-0.946000	0.06830	-0.130000	0.13190	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1488:0.3896:0.1658:0.2958	2.589	0.04545	520	0.74355	.;.;.;.	.	.	.	.	.	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	0.000507	0.000000	0.000000	0.000000	0.000000	0.000000	0.003125	0.000000	0.05	1898.43	41	chr22	42693749	.	G	A	1898.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.23;DP=609;ExcessHet=0;FS=1.314;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.527;SOR=0.642	GT:AD:DP:GQ:PL	0/1:69,71:140:99:1910,0,1761	9	0	1	0
chr22	42876169	42876169	C	G	exonic	PACSIN2	.	nonsynonymous SNV	PACSIN2:NM_001184971:exon9:c.G1193C:p.G398A,PACSIN2:NM_001349974:exon9:c.G1076C:p.G359A,PACSIN2:NM_001184970:exon10:c.G1316C:p.G439A,PACSIN2:NM_001349968:exon10:c.G1199C:p.G400A,PACSIN2:NM_001349971:exon10:c.G1199C:p.G400A,PACSIN2:NM_001349972:exon10:c.G1199C:p.G400A,PACSIN2:NM_001349973:exon10:c.G1199C:p.G400A,PACSIN2:NM_007229:exon10:c.G1316C:p.G439A,PACSIN2:NM_001349969:exon11:c.G1322C:p.G441A,PACSIN2:NM_001349970:exon11:c.G1322C:p.G441A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331	0.0254803859673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.163	0.36101	T	0.163	0.28433	B	0.275	0.40079	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-1.25	0.00764	N	0.93	0.44065	T	-5.05	0.82700	D	0.881	0.88246	-1.0312	0.20066	T	0.078	0.30982	T	10	0.46578756	0.59561	T	0.02548	0.48447	D	0.331	0.65325	0.59	0.71874	0.494299846589	0.49065	0.8212394961090356	0.82080	1.14006450707	0.78893	0.730294823647	0.71549	T	0.218106	0.58073	T	0.0853842	0.62666	D	-0.115128	0.62199	T	0.993790447711945	0.84746	D	0.963804	0.86758	D	0.64337987	0.75011	0.45086116	0.68045	0.64337987	0.75013	0.45086116	0.68046	-8.064	0.61506	D	.	.	0.6	0.68879	P	.;.;.;.;.;.	.;.;.;.;.;.	4.018423	0.59328	24.1	0.99759516428132045	0.84931	0.99027	0.90159	D	AEFDBHI	0.888467	0.82160	D	0.0270718389996554	0.43088	2.608705	0.19236442317033	0.49428	3.146068	0.999999999995945	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.711	0.71501	0	.	.	4.65	4.65	0.57626	7.505000	0.80519	7.475000	0.59195	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.0:1.0:0.0:0.0	18.415	0.90512	749	0.51929	SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	113.25	33	chr22	42876169	.	C	G	113.25	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.796;DP=422;ExcessHet=0;FS=63.084;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=2.8;SOR=6.447	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,21:96:99:0|1:42876169_C_G:122,0,2683:42876169	9	0	1	0
chr22	42876170	42876170	C	G	exonic	PACSIN2	.	nonsynonymous SNV	PACSIN2:NM_001184971:exon9:c.G1192C:p.G398R,PACSIN2:NM_001349974:exon9:c.G1075C:p.G359R,PACSIN2:NM_001184970:exon10:c.G1315C:p.G439R,PACSIN2:NM_001349968:exon10:c.G1198C:p.G400R,PACSIN2:NM_001349971:exon10:c.G1198C:p.G400R,PACSIN2:NM_001349972:exon10:c.G1198C:p.G400R,PACSIN2:NM_001349973:exon10:c.G1198C:p.G400R,PACSIN2:NM_007229:exon10:c.G1315C:p.G439R,PACSIN2:NM_001349969:exon11:c.G1321C:p.G441R,PACSIN2:NM_001349970:exon11:c.G1321C:p.G441R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	0.0530753557218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.046	0.83351	D	0.984	0.60733	D	0.949	0.68658	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.37	0.34214	L	0.71	0.51228	T	-6.91	0.93329	D	0.967	0.97750	-0.5260	0.67692	T	0.279	0.65079	T	10	0.8409664	0.83253	D	0.053075	0.65324	D	0.432	0.73807	0.698	0.83499	0.717345707198	0.71486	0.9082068975641326	0.90793	1.20414093018	0.80632	0.800867199898	0.82094	T	0.251894	0.65675	T	0.292036	0.82323	D	0.181713	0.82095	D	0.998328506946564	0.93833	D	0.964504	0.87464	D	0.8715425	0.88984	0.8007015	0.88313	0.8715425	0.88985	0.8007015	0.88314	-10.858	0.78873	D	.	.	0.980	0.91062	P	.;.;.;.;.;.	.;.;.;.;.;.	4.850563	0.79284	27.1	0.99923753845000329	0.98917	0.99027	0.90159	D	AEFDBHI	0.910423	0.86832	D	0.735828190663937	0.81979	7.650927	0.703653582705833	0.82657	7.821377	0.999999999995945	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.711	0.71501	0	.	.	4.65	4.65	0.57626	7.505000	0.80519	5.792000	0.49877	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:1.0:0.0:0.0	18.415	0.90512	749	0.51929	SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	122.01	57	chr22	42876170	.	C	G	122.01	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-0.997;DP=540;ExcessHet=0.2348;FS=63.084;InbreedingCoeff=-0.1896;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=2.44;SOR=6.447	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,21:96:99:0|1:42876169_C_G:122,0,2683:42876169	6	0	2	2
chr22	42876171	42876171	C	G	exonic	PACSIN2	.	nonsynonymous SNV	PACSIN2:NM_001184971:exon9:c.G1191C:p.E397D,PACSIN2:NM_001349974:exon9:c.G1074C:p.E358D,PACSIN2:NM_001184970:exon10:c.G1314C:p.E438D,PACSIN2:NM_001349968:exon10:c.G1197C:p.E399D,PACSIN2:NM_001349971:exon10:c.G1197C:p.E399D,PACSIN2:NM_001349972:exon10:c.G1197C:p.E399D,PACSIN2:NM_001349973:exon10:c.G1197C:p.E399D,PACSIN2:NM_007229:exon10:c.G1314C:p.E438D,PACSIN2:NM_001349969:exon11:c.G1320C:p.E440D,PACSIN2:NM_001349970:exon11:c.G1320C:p.E440D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00861372167055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	0.09866	T	0.57	0.10930	T	0.002	0.09854	B	0.008	0.13708	B	0.000008	0.62929	N	0.142987	0.999992	0.58761	D	0.745	0.18958	N	0.8	0.48769	T	-0.66	0.20145	N	0.353	0.41557	-1.0846	0.06480	T	0.054	0.22770	T	10	0.09133887	0.15991	T	0.008614	0.22755	T	0.104	0.29647	0.383	0.40134	0.270001397563	0.26616	0.5478621391655023	0.54712	0.331067288021	0.35186	0.692147135735	0.66015	T	0.050046	0.28483	T	-0.197532	0.21160	T	-0.521518	0.20141	T	0.284930050373077	0.24378	T	0.681032	0.40135	T	0.07302861	0.16289	0.05882683	0.10938	0.07302861	0.16289	0.05882683	0.10938	-4.183	0.28163	T	.	.	0.114	0.29806	B	.;.;.;.;.;.	.;.;.;.;.;.	0.300918	0.06766	3.282	0.97610557482568283	0.34904	0.19696	0.20760	N	AEFDBHI	0.146058	0.26942	N	-1.07765627730981	0.07057	0.3266908	-0.966091899784433	0.10552	0.5321817	0.964408446714129	0.28757	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.711	0.71501	0	.	.	4.65	-0.306	0.12147	-1.821000	0.01807	-0.631000	0.08125	-0.187000	0.09635	0.001000	0.13787	0.028000	0.21151	0.900000	0.43643	0.0:0.6498:0.0:0.3502	12.342	0.54424	749	0.51929	SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 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	.	.	.	.	.	.	.	.	0.1	119.17	40	chr22	42876171	.	C	G	119.17	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.904;DP=487;ExcessHet=0.2348;FS=63.084;InbreedingCoeff=-0.1088;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.84;ReadPosRankSum=2.47;SOR=6.447	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,21:96:99:0|1:42876169_C_G:122,0,2683:42876169	8	0	2	0
chr22	45417760	45417760	A	G	exonic	RIBC2	.	nonsynonymous SNV	RIBC2:NM_015653:exon3:c.A370G:p.K124E	.	441	1071	9	1	0	11	0.00510915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.00651781173854	0.0009	0.000599042	0.0011	0.0003	0.0006	0	0.0033	0.0012	0.0033	0.0010	0.0011319	175	154602	rs142282889	0.0016	0.0016	0.0016	0.0016	0.0017	0.0016	0.0015	0.0017	0.0017	0.0001	0.0009	0.0003	0	0.0026	0.0012	0.0017	0.0019	0.0013	0.0012	0.0012	0.0012	0.0012	0.0017	0.0010	0.0010	0.0015	0.0014	0.0003	0	0.0008	0.0009	0	0.0023	0	0.0017	0.0014	0.0012	.	.	.	0.024	0.56640	D	.	.	.	.	.	.	0.001457	0.38980	N	0.201297	0.874003	0.35618	D	.	.	.	.	.	.	.	.	.	0.443	0.48134	-0.9447	0.41863	T	0.111	0.39959	T	9	0.016529292	0.00349	T	0.006518	0.17186	T	.	.	.	.	0.490771696789	0.48710	0.3461498239524725	0.34528	.	.	0.316656112671	0.12914	T	0.125318	0.45095	T	-0.196895	0.21252	T	-0.0617691	0.66209	T	0.0280455961307354	0.01694	T	0.813119	0.46553	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.33823	B	.	.	3.099383	0.41763	21.4	0.99756186296661209	0.84694	0.83452	0.42568	D	AEFDBI	0.286885	0.39916	N	0.10507870177138	0.46700	2.906336	-0.00778896768607706	0.39363	2.332682	1.99062549117029E-5	0.02871	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.567892	0.33627	0	.	.	4.85	1.3	0.20778	2.562000	0.45576	2.276000	0.31865	0.756000	0.94297	0.988000	0.36536	0.001000	0.17328	0.998000	0.85391	0.585:0.2906:0.0:0.1244	7.810	0.28386	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	1532.43	34	chr22	45417760	.	A	G	1532.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=448;ExcessHet=0;FS=0.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=1.18;SOR=0.631	GT:AD:DP:GQ:PL	0/1:60,64:124:99:1544,0,1341	9	0	1	0
chr22	49774251	49774251	G	T	exonic	BRD1	.	nonsynonymous SNV	BRD1:NM_001349941:exon12:c.C3537A:p.D1179E,BRD1:NM_001304808:exon13:c.C3552A:p.D1184E,BRD1:NM_001304809:exon13:c.C3159A:p.D1053E,BRD1:NM_001349940:exon13:c.C3306A:p.D1102E,BRD1:NM_001349942:exon13:c.C2010A:p.D670E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.019065115992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.949	0.03631	T	0.52	0.10465	T	0.792	0.90584	P	0.138	0.84481	B	0.000000	0.84330	D	0.089052	0.999949	0.81001	D	1.01	0.25309	L	2.46	0.14907	T	-0.55	0.16799	N	0.265	0.30118	-1.0509	0.14147	T	0.097	0.36341	T	10	0.15361354	0.28992	T	0.019065	0.41331	T	0.191	0.46948	0.097	0.01334	0.650458046018	0.64755	0.24556380584350712	0.24470	1.03228781939	0.75458	0.679062843323	0.64134	T	0.051458	0.28885	T	-0.182387	0.23381	T	-0.499763	0.22372	T	0.485498648395369	0.32099	T	0.789121	0.43725	T	0.11890768	0.28007	0.10271489	0.24625	0.11890768	0.28007	0.10271489	0.24625	-4.321	0.28470	T	.	.	0.190	0.48386	B	.;.;.;.	.;.;.;.	4.225325	0.63937	24.6	0.87024749474708052	0.16936	0.98970	0.89343	D	AEFDBI	0.667309	0.63547	D	0.165806715718946	0.49562	3.155272	0.209780043201895	0.50390	3.231511	0.999945897474997	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.89	3.88	0.43959	4.550000	0.60443	5.071000	0.47178	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.631000	0.32184	0.0776:0.0:0.9224:0.0	13.305	0.59785	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	780.43	35	chr22	49774251	.	G	T	780.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.564;DP=386;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.811;SOR=0.769	GT:AD:DP:GQ:PL	0/1:40,32:72:99:792,0,1053	9	0	1	0
chrX	6533750	6533750	C	T	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G556A:p.V186M	.	434	1062	26	0	0	26	0.012093	.	.	.	3886662	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	.	.	.	0.0109	0.0078	0.0053	0	0.0141	0.0140	0.0103	0.0102	0.0002135	33	154602	rs74393938	0.0014	0.0055	0.0019	0.0003	0.0017	0.0013	0.0013	0.0014	0.0013	0.0008	0.0008	0.0047	0.0002	0.0033	0.0003	0.0012	0.0022	0.0017	0.0030	0.0069	0.0041	0	0.0035	0.0027	0.0026	0.0028	0.0026	0.0035	0	0.0018	0.0029	0.0003	0.0071	0	0.0028	0.0055	0.0017	0.0	0.91255	D	0.101	0.38596	T	0.982	0.60036	D	0.729	0.55225	P	.	.	.	.	0.999973	0.19072	N	0.695	0.17993	N	1.91	0.23283	T	0.14	0.05405	N	0.075	0.25867	-1.0439	0.16148	T	0.046	0.19800	T	8	0.0052250326	0.00114	T	.	.	.	0.057	0.16321	.	.	.	.	0.010725019350369076	0.01033	0.268142659766	0.29341	0.496027678251	0.38275	T	0.001791	0.01214	T	-0.39512	0.02492	T	-0.805339	0.01772	T	0.0207467507570982	0.00774	T	0.432757	0.11777	T	0.15995844	0.35904	0.15014142	0.35422	0.15995844	0.35904	0.15014142	0.35422	-4.895	0.35678	T	.	.	0.144	0.33573	B	.;.;.	.;.;.	0.449974	0.08202	4.937	0.85326322252058417	0.15823	0.04088	0.09549	N	AEFI	.	.	.	.	.	.	.	.	.	7.46993312473294E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.463	0.15912	-0.735000	0.04992	0.109000	0.14755	0.173000	0.17773	0.000000	0.06391	0.012000	0.20211	0.002000	0.04165	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.075304	0.057692	0.100935	0.063953	0.000000	0.048193	0.057292	0.040462	0.1111	927.46	606	chrX	6533750	.	C	T	927.46	.	AC=2;AF=0.111;AN=18;BaseQRankSum=3.31;DP=1715;ExcessHet=0.2348;FS=11.274;InbreedingCoeff=-0.1467;MLEAC=2;MLEAF=0.111;MQ=50.12;MQRankSum=-1.865;QD=2.01;ReadPosRankSum=2.76;SOR=1.59	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,13:183:34:0|1:6533736_G_C:34,0,7099:6533736	7	0	2	1
chrX	27460881	27460881	C	A	exonic	PPP4R3C	.	stopgain	PPP4R3C:NM_207319:exon1:c.G2416T:p.E806X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.771179	0.77233	26.7	0.5617988358136039	0.05497	0.14904	0.18645	N	AEFI	.	.	.	.	.	.	.	.	.	1.18809282208356E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	0.0443366	0.03230	3.25	0.363	0.15353	-0.040000	0.12056	-0.333000	0.09875	-0.360000	0.05510	0.002000	0.15269	0.000000	0.08366	0.007000	0.07825	0.0:0.5974:0.0:0.4026	6.627	0.22028	709	0.56835	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	38.71	1	chrX	27460881	.	C	A	38.71	.	AC=2;AF=0.2;AN=10;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;QD=19.35;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	5
chrX	37011352	37011352	C	T	exonic	FAM47C	.	nonsynonymous SNV	FAM47C:NM_001013736:exon1:c.C2942T:p.A981V	.	442	1077	2	1	0	4	0.00185357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00158015599224	0.0004	0.000794702	0.0006	0.0001	0.0002	0	0	0.0006	0	0.0017	0.0005627	87	154602	rs200986221	0.0006	0.0006	0.0006	0.0006	0.0039	0.0006	0.0006	0.0024	0.0020	0.0002	0.0003	5.165e-05	0	0.0001	0.0039	0.0006	0.0007	0.0014	0.0005	0.0006	0.0006	0.0004	0.0015	0.0004	0.0004	0.0006	0.0006	6.486e-05	0	0.0006	0.0004	0	0	0.0046	0.0008	0.0007	0.0015	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.08975	N	3.045	0.86684	M	0.85	0.47130	T	-3.7	0.70553	D	0.121	0.11197	-0.8342	0.53028	T	0.288	0.66007	T	8	0.027403772	0.00887	T	0.00158	0.02523	T	0.091	0.26358	.	.	0.383590876969	0.37966	0.07224352157520364	0.07161	0.576733969968	0.53626	0.412240058184	0.26766	T	0.199502	0.55679	T	-0.449666	0.01134	T	-0.448769	0.27832	T	0.08678783384658	0.10833	T	0.818618	0.47570	T	0.44358116	0.63632	0.4298475	0.66653	0.44358116	0.63633	0.4298475	0.66653	-6.801	0.52567	T	.	.	0.531	0.65959	A	.	.	2.590179	0.33598	19.39	0.99602916536774433	0.74338	0.02959	0.07794	N	AEFGBI	.	.	.	.	.	.	.	.	.	5.73669041342223E-5	0.04171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.502	0.16138	0.665000	0.24764	1.197000	0.24809	0.318000	0.19305	0.424000	0.26361	0.122000	0.22912	0.027000	0.12703	.	.	.	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.002755	0.000000	0.001855	0.000000	0.000000	0.011765	0.008889	0.000000	0.1	4677.12	36	chrX	37011352	.	C	T	4677.12	.	AC=2;AF=0.1;AN=20;DP=486;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=59.62;QD=33.17;SOR=0.996	GT:AD:DP:GQ:PL	1/1:0,141:141:99:4700,423,0	9	1	0	0
chrX	47586579	47586579	C	T	exonic	TIMP1	.	nonsynonymous SNV	TIMP1:NM_003254:exon6:c.C512T:p.T171M	.	417	1094	10	1	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.330603257133	0.0003	0.000794702	0.0006	0.0002	0	0	0	0.0007	0	0.0014	0.0005433	84	154602	rs199775125	0.0005	0.0005	0.0005	0.0005	0.0031	0.0005	0.0005	0.0019	0.0015	0.0001	0.0001	0.0006	3.311e-05	4.948e-05	0.0031	0.0005	0.0005	0.0015	0.0005	0.0005	0.0004	0.0005	0.0008	0.0004	0.0003	0.0006	0.0005	3.223e-05	0	0.0003	0.0004	0	0	0.0091	0.0008	0.0007	0.0004	0.174	0.22486	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000019	0.62929	D	0.000000	1	0.81001	D	2.865	0.83145	M	-3.41	0.94306	D	-3.59	0.74661	D	0.34	0.38129	0.884	0.95458	D	0.875	0.95861	D	10	0.098468155	0.17805	T	0.330603	0.91740	D	0.778	0.92583	.	.	0.957758064135	0.95731	0.7855805453621594	0.78509	0.92833888011	0.71719	0.590929746628	0.51625	T	0.698376	0.91293	D	0.0666663	0.60441	T	0.292906	0.87846	D	0.162283289508909	0.18038	T	0.855914	0.55137	D	0.28810596	0.51816	0.38470557	0.63405	0.28810596	0.51816	0.38470557	0.63405	-7.563	0.58052	D	.	.	0.240	0.48407	B	.;.	.;.	3.737428	0.53497	23.4	0.99923947470345009	0.98917	0.69739	0.34308	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999999986710587	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.23	5.23	0.72570	1.811000	0.38580	5.888000	0.50725	0.599000	0.40250	0.930000	0.32276	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	13.223	0.59323	541	0.72942	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.004129	0.000000	0.007421	0.003953	0.000000	0.000000	0.000000	0.005263	0.1	2259.12	37	chrX	47586579	.	C	T	2259.12	.	AC=2;AF=0.1;AN=20;DP=391;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.96;SOR=0.744	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2282,234,0	9	1	0	0
chrX	49039321	49039321	G	A	exonic	TFE3	.	nonsynonymous SNV	TFE3:NM_001282142:exon3:c.C5T:p.S2L,TFE3:NM_006521:exon3:c.C320T:p.S107L	Renal cell carcinoma, papillary, 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00633501382377	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264471344	3.693e-06	3.652e-06	4.101e-06	2.843e-06	3.338e-05	8.6e-07	5.8e-07	9.6e-07	2.7e-07	0	0	0	3.338e-05	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.213	0.26467	T	0.081	0.24602	B	0.006	0.12133	B	0.033198	0.24930	N	0.326142	0.592321	0.32467	D	1.7	0.43825	L	2.36	0.16089	T	-1.73	0.41046	N	0.299	0.33796	-1.0749	0.08369	T	0.033	0.14290	T	10	0.24231541	0.41425	T	0.006335	0.16639	T	0.049	0.13647	0.27	0.21893	0.138757226776	0.13463	0.5193158588637525	0.51854	0.814098478581	0.66863	0.759120702744	0.75799	T	0.589346	0.86673	D	-0.247526	0.14404	T	-0.59333	0.13380	T	0.7932049036026	0.45900	D	0.885811	0.61165	D	0.2122582	0.43572	0.26008326	0.51767	0.2122582	0.43572	0.26008326	0.51766	-3.557	0.17239	T	.	.	0.142	0.31177	B	.	.	4.345984	0.66707	25.0	0.99770152349359653	0.85834	0.95598	0.65363	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999971519615	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.36	4.5	0.54382	3.035000	0.49449	11.610000	0.93539	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	1.000000	0.97212	0.0948:0.0:0.9052:0.0	10.422	0.43544	36	0.98055	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2143	210.33	44	chrX	49039321	.	G	A	210.33	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.35;DP=461;ExcessHet=0.7463;FS=280.432;InbreedingCoeff=-0.3003;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=-0.037;SOR=8.409	GT:AD:DP:GQ:PL	0/1:25,8:35:7:7,0,427	4	0	3	3
chrX	55146088	55146088	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C347A:p.T116K,FAM104B:NM_001166701:exon3:c.C344A:p.T115K,FAM104B:NM_001166702:exon3:c.C335A:p.T112K,FAM104B:NM_001166703:exon3:c.C341A:p.T114K	.	389	931	201	1	0	203	0.0983051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0145806555527	.	.	.	.	.	.	.	.	.	.	2.59e-05	4	154602	rs908148278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	0.753	0.43334	P	0.139	0.33484	B	.	.	.	.	1	0.08975	N	.	.	.	0.55	0.54728	T	-4.2	0.75695	D	0.166	0.24883	-1.0379	0.17954	T	0.075	0.30272	T	9	0.13617307	0.25909	T	0.014581	0.34790	T	0.065	0.18881	0.383	0.40134	0.0297737177859	0.01360	0.5893565244531019	0.58865	0.102169319623	0.11567	.	.	.	.	.	.	-0.300639	0.08600	T	-0.669624	0.07632	T	0.278895500268211	0.24125	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	-3.286	0.14829	T	.	.	0.403	0.59716	A	.;.;.	.;.;.	2.694763	0.35184	19.83	0.76654625307924973	0.11555	0.30125	0.24001	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.922000	0.39675	-0.587000	0.08344	0.596000	0.33519	0.989000	0.36753	0.000000	0.08366	0.084000	0.17470	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	.	.	.	.	.	.	.	.	0.1	1034.14	541	chrX	55146088	.	G	T	1034.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.883;DP=4997;ExcessHet=0.2348;FS=0.83;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=0.338;SOR=0.881	GT:AD:DP:GQ:PL	0/1:521,66:587:99:313,0,16201	8	0	2	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	0.6	158397.0	692	chrX	55146104	.	G	A	158397.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.32;DP=6323;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6653;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=25.85;ReadPosRankSum=0.287;SOR=0.699	GT:AD:DP:GQ:PL	0/1:62,534:596:20:16988,0,20	0	2	8	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I,FAM104B:NM_001166701:exon3:c.C293T:p.T98I,FAM104B:NM_001166702:exon3:c.C284T:p.T95I,FAM104B:NM_001166703:exon3:c.C290T:p.T97I	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018776	0.006803	0.014842	0.027668	0.000000	0.023529	0.022124	0.021053	0.3333	11747.7	759	chrX	55146139	.	G	A	11747.7	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.35;DP=6406;ExcessHet=4.5998;FS=0;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.98;ReadPosRankSum=1.78;SOR=0.663	GT:AD:DP:GQ:PL	0/1:491,96:587:99:1012,0,14150	3	0	6	1
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	0.3889	17194.3	727	chrX	55146173	.	G	A	17194.3	.	AC=7;AF=0.389;AN=18;BaseQRankSum=-0.183;DP=6264;ExcessHet=7.0302;FS=0.657;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.389;MQ=60;MQRankSum=0;QD=3.88;ReadPosRankSum=-1.269;SOR=0.764	GT:AD:DP:GQ:PL	0/1:446,93:539:99:1233,0,13393	2	0	7	1
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	0.4	18556.0	651	chrX	55146197	.	G	A	18556.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.77;DP=5678;ExcessHet=10.3881;FS=1.386;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=4.24;ReadPosRankSum=0.06;SOR=0.804	GT:AD:DP:GQ:PL	0/1:344,146:490:99:3423,0,10301	2	0	8	0
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	.	.	.	.	.	.	.	.	0.55	134143.0	565	chrX	55146212	.	C	T	134143.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=2.02;DP=5292;ExcessHet=15.1594;FS=0.71;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=26.73;ReadPosRankSum=1.7;SOR=0.564	GT:AD:DP:GQ:PL	0/1:65,354:441:99:11640,0,652	0	1	9	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	0.35	12199.0	433	chrX	55146247	.	G	C	12199.0	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.305;DP=3949;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=4.67;ReadPosRankSum=0.28;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:269,62:331:99:0|1:55146247_G_C:1741,0,10775:55146247	3	0	7	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	12021.9	417	chrX	55146252	.	A	AT	12021.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.697;DP=3806;ExcessHet=7.0302;FS=0.667;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=4.91;ReadPosRankSum=-0.372;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:226,61:309:99:.:.:1796,0,9698:.	3	0	7	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	.	.	.	.	.	.	.	.	0.55	71226.0	403	chrX	55146254	.	T	C	71226.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.498;DP=3799;ExcessHet=15.1594;FS=1.854;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=19.82;ReadPosRankSum=-1.02;SOR=0.524	GT:AD:DP:GQ:PL	0/1:115,187:302:99:5836,0,3994	0	1	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	11620.9	409	chrX	55146255	.	TG	T	11620.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.137;DP=3477;ExcessHet=7.0302;FS=0.698;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=4.81;ReadPosRankSum=-0.267;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:241,60:301:99:0|1:55146247_G_C:1778,0,9933:55146247	3	0	7	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	0.55	71590.0	324	chrX	55146275	.	T	G	71590.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=0.041;DP=2982;ExcessHet=15.1594;FS=7.491;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=25.64;ReadPosRankSum=-3.645;SOR=0.437	GT:AD:DP:GQ:PL	0/1:52,183:235:99:6044,0,1412	0	1	9	0
chrX	71612921	71612921	G	A	exonic	GCNA	.	nonsynonymous SNV	GCNA:NM_052957:exon13:c.G2015A:p.G672E	.	.	.	.	.	.	.	.	.	.	.	3261886	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.545	0.152402218779	9.5e-05	.	9.384e-05	0.0001	0	0	0	6.396e-05	0	0.0004	7.12e-05	11	154602	rs367815000	5.1e-05	5.099e-05	5.173e-05	4.952e-05	0.0002	4.027e-05	3.619e-05	6.058e-05	4.24e-05	0	0	0	0	0	0.0002	5.7e-05	0	0.0001	5.37e-05	6.093e-05	3.854e-05	8.852e-05	0.0007	2.327e-05	1.565e-05	0.0001	5.528e-05	0	0	0	0	0	0	0	7.525e-05	0	0.0007	0.002	0.72154	D	0.007	0.69154	D	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.999994	0.58761	D	2.485	0.72352	M	0.76	0.49919	T	-6.57	0.91912	D	0.368	0.40963	-0.4610	0.70034	T	0.294	0.66536	T	9	0.4491158	0.58585	T	0.152402	0.83382	D	0.545	0.81077	.	.	0.703120990762	0.70054	0.7768380179041626	0.77633	0.260186088043	0.28586	0.488753944635	0.37265	T	0.232897	0.59957	T	0.0381955	0.56810	T	0.113281	0.77790	D	0.396918185812601	0.28826	T	0.520648	0.16939	T	0.5679257	0.70946	0.60655797	0.77125	0.5679257	0.70947	0.60655797	0.77126	-8.015	0.61172	D	.	.	0.521	0.65533	A	.;.	.;.	2.146596	0.27338	17.43	0.98374754741387938	0.40791	0.97230	0.73460	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999686793045	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.32	3.45	0.38602	6.189000	0.71974	3.973000	0.40841	-0.727000	0.03751	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.0:0.8075:0.1925	10.653	0.44854	253	0.90069	SprT-like;SprT-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2288.12	38	chrX	71612921	.	G	A	2288.12	.	AC=2;AF=0.1;AN=20;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.72;SOR=0.719	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2311,230,0	9	1	0	0
chrX	74591813	74591813	G	A	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.C1502T:p.S501L,RLIM:NM_183353:exon5:c.C1502T:p.S501L	Mental retardation, X-linked 61, X-linked recessive	9	1490	23	0	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00392722355489	.	.	0.0002	0.0001	0	0	0	0.0002	0	0.0005	3.84e-05	1	26028	rs200629905	9.112e-07	2.732e-06	1.361e-06	0	1.188e-06	0	0	.	.	0	0	0	0	0	0	1.188e-06	0	0	1.841e-05	0.0001	2.588e-05	0	3.351e-05	3.06e-06	1.15e-06	.	.	3.351e-05	0	0	0	0	0	0	1.925e-05	0	0	0.42	0.09836	T	0.382	0.15890	T	0.0	0.02946	B	0.0	0.01387	B	0.264373	0.15251	N	0.666655	0.949983	0.37675	D	0.75	0.19020	N	3.03	0.08898	T	-0.73	0.20576	N	0.123	0.11483	-1.0706	0.09282	T	0.025	0.10598	T	10	0.013200998	0.00281	T	0.003927	0.09274	T	0.132	0.35948	.	.	0.474660930215	0.47096	0.4159198749435835	0.41507	0.659223824986	0.58794	0.605702996254	0.53710	T	0.099372	0.40412	T	-0.300593	0.08604	T	-0.669557	0.07637	T	0.123469986021519	0.14766	T	0.649135	0.25986	T	0.103400156	0.24439	0.122803114	0.29618	0.103400156	0.24438	0.122803114	0.29617	-7.457	0.57308	T	0.06091627704634275	0.01704	0.072	0.04198	B	.;.	.;.	1.715856	0.21849	15.37	0.81488155183217736	0.13710	0.91941	0.54595	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999021295674977	0.38237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.41	4.55	0.55429	2.957000	0.48830	4.344000	0.43067	-0.113000	0.14837	0.998000	0.41325	1.000000	0.68203	0.948000	0.49324	0.0772:0.0:0.9228:0.0	13.469	0.60726	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.035865	0.095238	0.024119	0.019763	0.071429	0.035294	0.044248	0.026316	0.25	632.51	118	chrX	74591813	.	G	A	632.51	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.041;DP=664;ExcessHet=2.8389;FS=0.949;InbreedingCoeff=-0.3742;MLEAC=5;MLEAF=0.25;MQ=58.42;MQRankSum=-6.076;QD=1.81;ReadPosRankSum=-2.665;SOR=0.746	GT:AD:DP:GQ:PL	0/1:48,7:55:53:53,0,1536	5	0	5	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.4	6265.98	352	chrX	74591904	.	A	G	6265.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.776;DP=1908;ExcessHet=10.3881;FS=2.691;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=58.48;MQRankSum=-11.5;QD=3.42;ReadPosRankSum=3.83;SOR=0.478	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,19:218:99:0|1:74591902_T_A:199,0,8299:74591902	2	0	8	0
chrX	125322151	125322151	C	G	exonic	TEX13C	.	nonsynonymous SNV	TEX13C:NM_001195272:exon1:c.C2032G:p.P678A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000529801	0.0002	0.0041	0	0	0	0	0	0	7.68e-05	2	26028	rs781099974	0.0002	0.0002	0.0003	0.0001	0.0043	0.0002	0.0002	0.0034	0.0031	0.0043	0.0003	0	0	0	0.0007	1.285e-05	0.0007	0	0.0011	0.0012	0.0013	0.0004	0.0042	0.0009	0.0009	0.0035	0.0032	0.0042	0	0.0003	0	0	0	0	2.241e-05	0.0009	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	0.007076949	0.00161	T	.	.	.	.	.	.	.	.	.	0.02885650039510475	0.02835	.	.	0.290801823139	0.09039	T	0.032233	0.22396	T	.	.	.	.	.	.	.	.	.	0.337066	0.07215	T	0.029817805	0.02540	0.07703134	0.17119	0.029817805	0.02540	0.07703134	0.17119	-6.576	0.50869	T	.	.	0.411	0.60199	A	.	.	-0.491861	0.01894	0.156	0.44585277230600173	0.03438	0.01539	0.05057	N	AEFI	.	.	.	.	.	.	.	.	.	1.69574411765972E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	0.0448725	0.03863	1.85	-0.102	0.12951	-1.235000	0.03037	-15.654000	0.00347	-0.672000	0.04293	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4853:0.304:0.2107	2.741	0.04930	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.006849	0.020408	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	7474.12	41	chrX	125322151	.	C	G	7474.12	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.1;DP=646;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=52.19;MQRankSum=-0.497;QD=29.43;ReadPosRankSum=-0.957;SOR=0.827	GT:AD:DP:GQ:PL	1/1:2,252:254:99:7497,711,0	9	1	0	0
chrX	129540739	129540739	C	T	splicing	OCRL	NM_001318784:exon2:c.40-2C>T	.	.	Dent disease 2, X-linked recessive;Lowe syndrome, X-linked recessive	.	.	.	.	.	.	.	.	.	.	208866	not_specified|Nephrolithiasis/nephrocalcinosis|Lowe_syndrome|not_provided	MedGen:CN169374|MedGen:CN580796|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000,Orphanet:534|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0004	0.0013245	0.0002	0.0024	0.0001	0	0	0	0	0	0.0002393	37	154602	rs201211377	0.0001	0.0001	0.0001	0.0001	0.0039	0.0001	0.0001	0.0033	0.0030	0.0039	0	0	0	0	0.0015	1.671e-05	0.0005	0	0.0008	0.0009	0.0008	0.0008	0.0029	0.0007	0.0006	0.0024	0.0022	0.0029	0	0.0002	0	0	0	0	0	0.0007	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1730.12	33	chrX	129540739	.	C	T	1730.12	.	AC=2;AF=0.1;AN=20;DP=365;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.32;SOR=1.421	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1753,177,0	9	1	0	0
chrX	130346693	130346693	-	GA	splicing	SLC25A14	NM_001282198:exon3:c.212+2->GA;NM_001282197:exon4:c.308+2->GA;NM_001282195:exon4:c.317+2->GA;NM_001282196:exon4:c.308+2->GA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.624e-06	4.554e-06	5.452e-06	2.877e-06	0.0002	1.35e-06	9.9e-07	7.525e-05	4.871e-05	0.0002	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2613.08	34	chrX	130346693	.	T	TGA	2613.08	.	AC=2;AF=0.1;AN=20;DP=384;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=23.53;SOR=1.197	GT:AD:DP:GQ:PL	1/1:0,61:61:99:2636,183,0	9	1	0	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	.	.	.	.	.	.	.	.	0.4	353.72	80	chrX	135580144	.	G	C	353.72	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.669;DP=603;ExcessHet=10.3881;FS=244.206;InbreedingCoeff=-0.6585;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=-0.147;SOR=10.741	GT:AD:DP:GQ:PL	0/1:28,12:40:8:8,0,350	2	0	8	0
chrX	152736690	152736690	A	G	exonic	MAGEA12	.	nonsynonymous SNV	MAGEA12:NM_005367:exon2:c.A529G:p.I177V,MAGEA12:NM_001166386:exon3:c.A529G:p.I177V,MAGEA12:NM_001166387:exon3:c.A529G:p.I177V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00140421189835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.2	0.07236	T	0.49	0.02993	N	0.138	0.13626	.	.	.	.	.	.	.	0.034472078	0.01657	T	.	.	.	.	.	.	.	.	.	0.8282672130425578	0.82784	.	.	.	.	.	0.004214	0.03621	T	.	.	.	.	.	.	.	.	.	0.0451455	0.00319	T	.	.	.	.	.	.	.	.	-1.588	0.01954	T	.	.	0.096	0.16451	B	.;.;.	.;.;.	-1.008770	0.00759	0.024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.014000	0.29553	.	.	0.291000	0.18778	0.118000	0.23139	0.000000	0.08366	0.022000	0.11911	.	.	.	663	0.61610	MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain;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	0	0	.	.	.	.	.	.	.	.	0.1	5377.12	34	chrX	152736690	.	A	G	5377.12	.	AC=2;AF=0.1;AN=20;DP=497;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.54;SOR=0.715	GT:AD:DP:GQ:PL	1/1:0,182:182:99:5400,545,0	9	1	0	0
chrX	152759467	152759467	C	T	exonic	CSAG3	.	nonsynonymous SNV	CSAG3:NM_001129826:exon1:c.C97T:p.R33C,CSAG3:NM_001129828:exon1:c.C97T:p.R33C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348141659	6.124e-05	6.847e-05	8.669e-05	5.975e-06	0.0002	4.923e-05	4.485e-05	0.0001	7.707e-05	7.703e-05	5.771e-05	0	0.0002	0	0	6.412e-05	2.242e-05	1.878e-05	6.421e-05	0.0001	6.459e-05	6.329e-05	0.0001	2.964e-05	2.111e-05	3.784e-05	2.452e-05	3.257e-05	0	0.0001	0	0	0	0	9.687e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078345686	0.12474	T	.	.	.	.	.	.	.	.	.	0.001029494994407996	0.00094	.	.	0.466442525387	0.34193	T	.	.	.	.	.	.	.	.	.	.	.	.	0.464354	0.13557	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.32275	B	.;.	.;.	-0.624189	0.01506	0.095	0.12380550230466277	0.00213	0.00038	0.00324	N	AEFI	.	.	.	.	.	.	.	.	.	3.28319088965819E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	0.0445101	0.03527	0.109	-0.218	0.12495	-3.961000	0.00366	.	.	-5.466000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	728	0.54609	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1435.43	39	chrX	152759467	.	C	T	1435.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.413;DP=472;ExcessHet=0;FS=5.211;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.61;MQRankSum=-1.865;QD=9.2;ReadPosRankSum=-0.962;SOR=1.148	GT:AD:DP:GQ:PL	0/1:92,64:156:99:1447,0,2230	9	0	1	0